Ataxia-Telangiectasia

Descripción General

Definición

La ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia es un trastorno neurodegenerativo autosómico recesivo raro caracterizado por ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia progresiva y disfunción multisistémica debido a un defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen ATM (ATM serina/treonina quinasa o el gen mutado de la ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia).

Epidemiología

• Incidencia: 1 por cada 20 000–100 000 nacimientos
• Hombres = mujeres
• 1%–2% de los LOS Neisseria caucásicos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria Estados Unidos portan 1 gen defectuoso de ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia.
• 2da ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia autosómica recesiva más común en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum niños

Herencia

• Herencia autosómica recesiva
• El gen ATM defectuoso se encuentra en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el cromosoma 11 (11q22.3).
• La herencia ocurre cuando 2 padres con un gen ATM recesivo (portadores) producen descendencia:
  • 1 en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum 4 posibilidades en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum nacer un niño afectado
  • 2 en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum 4 posibilidades en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum nacer y ser portadores
  • 1 en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum 4 posibilidades en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum nacer y no estar no afectado

Etiología

• Gen ATM :
  • El producto proteico tiene una región que funciona de manera similar a la fosfatidilinositol-3 quinasa:
    • Detiene el ciclo celular en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum presencia de daño en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el ácido desoxirribonucleico (ADN) para permitir la reparación
    • Inicia la detención del ciclo celular o la apoptosis Apoptosis A regulated cell death mechanism characterized by distinctive morphologic changes in the nucleus and cytoplasm, including the endonucleolytic cleavage of genomic DNA, at regularly spaced, internucleosomal sites, I.e., DNA fragmentation. It is genetically-programmed and serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. Ischemic Cell Damage si los LOS Neisseria intentos de reparación del ADN son inadecuados
  • El producto proteico tiene una región involucrada en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la reparación del ADN:
    • Repara mutaciones somáticas para evitar el paso de ADN mutante a las células hijas
    • Protege las células del daño causado por las agresiones ambientales (e.g., radiación ionizante)
  • Expresado constitutivamente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum todos los LOS Neisseria tejidos corporales
• Mutación del gen ATM:
  • La quinasa disfuncional no logra detener el ciclo celular en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum presencia de ADN dañado:
    • Las células con mutaciones somáticas pueden dividirse sin control.
    • Las líneas celulares mutadas desprovistas de puntos de control normales pueden volverse tumorigénicas.
  • La incapacidad para reparar el ADN hace HACE Altitude Sickness que las células sean susceptibles al AL Amyloidosis efecto de los LOS Neisseria desencadenantes patógenos:
    • Las células normales y las células que ya portan mutaciones pueden adquirir nuevas mutaciones que fomentan la tumorigenicidad.
    • La mutación somática de los LOS Neisseria linfocitos afecta la función de control del sistema inmunitario para detectar y eliminar las líneas celulares mutadas.

Fisiopatología

La ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia es causada por mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen ATM. Las mutaciones pueden aparecer en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum una variedad de formas:

Tipos de mutaciones

• Mutaciones sin sentido
• Mutaciones de cambio de marco
• Mutaciones de sentido erróneo
• Mutaciones de inserción-deleción

Patogénesis

Las mutaciones en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen ATM aumentan el riesgo de cáncer y radiosensibilidad. Las mutaciones conducen a una proteína disfuncional, que provoca:

• Reparación defectuosa del ADN celular
• Control defectuoso del ciclo celular
• Respuesta celular defectuosa a desencadenantes externos:
  • Daño oxidativo
  • Radiación ionizante
  • Agentes alquilantes

Mecanismo

• El gen ATM codifica la proteína quinasa ATM, que es un regulador clave de la respuesta celular a las roturas en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el ADN de doble cadena.
• La presentación clínica observada en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia es la consecuencia directa de la respuesta al AL Amyloidosis daño del ADN.
• En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum presencia de daño en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el ADN, la ATM cinasa fosforila la proteína supresora de tumores p53, que detiene el ciclo celular o inicia la apoptosis Apoptosis A regulated cell death mechanism characterized by distinctive morphologic changes in the nucleus and cytoplasm, including the endonucleolytic cleavage of genomic DNA, at regularly spaced, internucleosomal sites, I.e., DNA fragmentation. It is genetically-programmed and serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth. Ischemic Cell Damage.
• El defecto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el gen ATM impide la reparación celular y promueve la progresión del ciclo celular del ADN dañado.

Manifestaciones

• Anomalías del sistema nervioso central (SNC):
  • Pérdida de células de Purkinje → atrofia cerebelosa
  • Se presenta con ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia y movimientos oculares anormales
• Anomalías del sistema nervioso periférico (SNP):
  • Disfunción de las células de Schwann → mielinización defectuosa
  • La ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia empeora a medida que se deterioran las habilidades motoras gruesas y finas.
• Anomalías del sistema inmunológico:
  • Hipoplasia de la glándula del timo → disminución del número y disfunción de las células T
  • Presentan inmunodeficiencia

Presentación Clínica

Los LOS Neisseria síntomas de la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia se presentan en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria 1ros 5 años de vida y progresan con la edad del individuo afectado:

Ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia

• A menudo, la 1ra manifestación clínica aparente
• Los LOS Neisseria individuos afectados pueden tener un retraso para caminar:
  • La fluidez de la marcha no se desarrolla
  • Inestabilidad postural
• Marcha de base estrecha (a diferencia de otras ataxias infantiles)
• Las caídas son menos frecuentes (a diferencia de otras ataxias infantiles).
• A medida que las anomalías del SNC y del SNP se deterioran con la edad, la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia empeora:
  • A menudo acompañada de otros síntomas/signos de disfunción cerebelosa:
    • Disartria
    • Movimientos complejos retrasados o incómodos
  • Los LOS Neisseria individuos afectados a menudo requieren asistencia para la movilidad en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la 2da década de vida.

Movimientos oculares anormales

• A menudo normales en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la edad preescolar
• Un desarrollo posterior de anomalías en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el movimiento ocular voluntario e involuntario:
  • Movimiento descoordinado de la cabeza con los LOS Neisseria ojos al AL Amyloidosis seguir un objeto en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum movimiento
  • Retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el inicio del movimiento ocular
  • Se pierde la fluidez del movimiento de los LOS Neisseria ojos (i.e., los LOS Neisseria ojos se mueven en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum pequeños “saltos”).
  • Incapacidad para mantener la mirada en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria extremos del movimiento ocular:
    • Dificultad para leer textos largos
    • Desarrollo de estrabismo

Deterioro cognitivo

• Se presenta a una edad temprana
• Progresa con la edad
• Gravedad leve a moderada
• Los LOS Neisseria retrasos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el habla son comunes.
• Las dificultades para masticar y tragar a menudo acompañan a las dificultades del habla.

Síntomas extrapiramidales

Responsables de muchas de las anomalías motoras características de la ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia:

• Temblor
• Mioclonías
• Distonía
• Corea
• Retraso en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el tiempo de reacción

Disfunciones neurológicas misceláneas

• La neuropatía periférica a menudo está presente, pero juega un papel menor en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum comparación con la disfunción neurológica que está manifiesta.
• La debilidad de la neurona motora inferior suele estar presente y contribuye a la progresión de la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia.

Manifestaciones dermatológicas

• Telangiectasias Telangiectasias Ataxia-telangiectasia:
  • Erupciones de vasos sanguíneos pequeños y ensanchados en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la piel o en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las membranas de las mucosas
  • Aparecen entre los LOS Neisseria 5–6 años de edad (después del inicio de la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia, lo que puede conducir a un diagnóstico tardío)
  • Áreas de telangiectasias Telangiectasias Ataxia-telangiectasia:
    • Conjuntiva bulbar
    • Pabellones de las orejas
    • Nariz
    • Cara
    • Cuello
• Máculas café con leche
• Máculas hipopigmentadas
• Nevos melanocíticos
• Erupción papuloescamosa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la cara

Inmunodeficiencia

• La inmunidad celular y humoral se ven afectadas.
• Afecta principalmente a los LOS Neisseria sistemas sinopulmonares:
  • Infecciones sinusales recurrentes
  • Infecciones pulmonares recurrentes
• Susceptibilidad a infecciones neumocócicas
• Poco común:
  • Manifestaciones extrarrespiratorias
  • Infecciones oportunistas

Enfermedad pulmonar progresiva

• Infecciones sinopulmonares recurrentes
• Bronquiectasias
• Enfermedad pulmonar intersticial/ fibrosis Fibrosis Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. Bronchiolitis Obliterans pulmonar:
  • Tos TOS Thoracic outlet syndrome (TOS) is a broad term used for a spectrum of syndromes related to the general region of the thoracic outlet, which involves the compression or irritation of elements of the brachial plexus, subclavian artery, or subclavian vein. Thoracic Outlet Syndrome no productiva
  • Disnea
  • Fiebre
  • Taquipnea
  • Hipoxemia
  • Crepitantes
• Debilidad de los LOS Neisseria músculos respiratorios
• Disfagia → ↑ riesgo de aspiración

Mayor riesgo de malignidad

• Mamas
• Ovárico
• Linfomas
• Leucemias

Manifestaciones clínicas misceláneas

• Retraso del crecimiento
• Retraso de la pubertad

Diagnóstico

El diagnóstico de ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia se basa principalmente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la presentación clínica. El diagnóstico se confirma mediante pruebas de laboratorio, pruebas genéticas y estudios de imagenología.

Presentación clínica

• Ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia de aparición temprana en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la 1ra década de la vida:
  • Ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia clásica
  • Apraxia Apraxia A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant parietal lobe and supramarginal gyrus. Cranial Nerve Palsies oculomotora
• Implicación de múltiples sistemas:
  • Neurológico
  • Inmunológico
  • Pulmonar
  • Dermatológico

Estudios de laboratorio

• Aumento de α-fetoproteína:
  • Elevado después de la infancia y tiende a aumentar con la edad
  • Los LOS Neisseria niveles no se correlacionan bien con la gravedad de la enfermedad.
• Deficiencia de inmunoglobulina ( Ig Ig X-linked Agammaglobulinemia):
  • IgG IgG The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of igg, for example, igg1, igg2a, and igg2b. Hypersensitivity Pneumonitis disminuida
  • IgA IgA Represents 15-20% of the human serum immunoglobulins, mostly as the 4-chain polymer in humans or dimer in other mammals. Secretory iga is the main immunoglobulin in secretions. Immunoglobulins: Types and Functions disminuida
  • Niveles variables de IgM IgM A class of immunoglobulin bearing mu chains (immunoglobulin mu-chains). Igm can fix complement. The name comes from its high molecular weight and originally being called a macroglobulin. Immunoglobulins: Types and Functions
• Linfopenia:
  • La manifestación más destacada es una reducción de las células T.
  • Pueden verse afectadas otras líneas celulares.

Neuroimagenología

• La resonancia magnética (RM) es el estándar de oro.
• La atrofia cerebelosa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el vermis es la característica principal:
  • La atrofia puede estar ausente o ser mínima al AL Amyloidosis inicio de la ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia.
  • Los LOS Neisseria hallazgos se vuelven más prominentes a medida que avanza la edad.
• En EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum individuos mayores, los LOS Neisseria cambios crónicos en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la sustancia blanca pueden volverse evidentes.

Pruebas genéticas

• La detección de la mutación homocigótica del gen ATM establece el diagnóstico de ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia.
• Detección de mutación heterocigota compuesta del gen ATM
• Están indicados los LOS Neisseria tamizajes de los LOS Neisseria miembros de la familia y el asesoramiento genético.

Tratamiento

El tratamiento de la ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia es de soporte con el tratamiento de los LOS Neisseria síntomas:

Síntomas neurológicos

• El objetivo principal es garantizar una buena calidad de vida a los LOS Neisseria individuos que viven con ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia.
• Se realiza fisioterapia y evaluaciones periódicas para prevenir las complicaciones (i.e., caídas).
• La administración de amantadina ha HA Hemolytic anemia (HA) is the term given to a large group of anemias that are caused by the premature destruction/hemolysis of circulating red blood cells (RBCs). Hemolysis can occur within (intravascular hemolysis) or outside the blood vessels (extravascular hemolysis). Hemolytic Anemia mostrado una mejoría en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum los LOS Neisseria síntomas neurológicos.

Cáncer y radiosensibilidad

• Tamizaje de rutina de tumores malignos de mama y ovario
• Monitoreo regular Regular Insulin para detectar neoplasias hematológicas tempranas
• El tratamiento de las neoplasias malignas es complicado porque los LOS Neisseria individuos con ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia son radiosensibles; la radioterapia puede causar reacciones graves.
• Los LOS Neisseria agentes quimioterapéuticos deben utilizarse con cuidado debido al AL Amyloidosis aumento del efecto citotóxico:
  • Vigilar cuidadosamente el tratamiento.
  • Evitar agentes alquilantes y epipodofilotoxinas.

Compromiso inmunológico

• Administración de Ig Ig X-linked Agammaglobulinemia intravenosa
• Administración de antibióticos profilácticos
• Las vacunas vivas están contraindicadas.
• Monitoreo del recuento de células T

Compromiso pulmonar

• Profilaxis antibiótica para prevenir la aparición de infecciones sinopulmonares
• Fisioterapia torácica para prevenir/tratar infecciones crónicas
• Las técnicas de aclaramiento pulmonar y los LOS Neisseria dispositivos de asistencia para la tos TOS Thoracic outlet syndrome (TOS) is a broad term used for a spectrum of syndromes related to the general region of the thoracic outlet, which involves the compression or irritation of elements of the brachial plexus, subclavian artery, or subclavian vein. Thoracic Outlet Syndrome se recetan a individuos con debilidad de los LOS Neisseria músculos respiratorios.
• Los LOS Neisseria glucocorticoides son una opción de tratamiento para individuos con enfermedad pulmonar intersticial, pero no se prefieren porque los LOS Neisseria glucocorticoides comprometen aún más la inmunidad.
• Monitoreo regular Regular Insulin de la función pulmonar
• Vigilancia por RM para evaluar el daño pulmonar
• Ventilación no invasiva para individuos con insuficiencia respiratoria crónica

Nutrición

• La deglución debe evaluarse formalmente en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum individuos con ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia.
• El reflujo gastroesofágico puede estar presente y debe ser monitoreado.
• Se recomienda la terapia del habla y del lenguaje para ayudar con los LOS Neisseria problemas de deglución y nutrición.
• Las bebidas deben consumirse con pajilla.
• La alimentación con los LOS Neisseria dedos es más exitosa que la alimentación con utensilios.

Complicaciones y Pronóstico

Complicaciones

• Aspiración silenciosa
• Deterioro cognitivo
• Mayor riesgo de caídas
• Déficits neurológicos
• Daño pulmonar
• Infecciones recurrentes
• Malignidad

Pronóstico

• La supervivencia general de los LOS Neisseria individuos con ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia depende del control regular Regular Insulin de los LOS Neisseria síntomas, la atención cuidadosa para prevenir infecciones y la identificación temprana de tumores.
• Los LOS Neisseria individuos con la forma clásica pueden o no llegar a la edad adulta.
• Las formas más leves y de aparición adulta de la enfermedad tienen una mayor esperanza de vida.
• Edad media de supervivencia: 19–25 años
• Las formas atípicas son más leves y tienen una esperanza de vida más larga.

Diagnóstico Diferencial

• Parálisis cerebral: un trastorno congénito que afecta el movimiento, tono muscular y postura. La parálisis cerebral se presenta con reflejos exagerados, extremidades flácidas o rígidas y movimientos involuntarios. El diagnóstico se basa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la presentación clínica. Muchos casos de ataxia-telangiectasia Ataxia-telangiectasia Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a neurocutaneous syndrome, which involves multiple systems but mainly affects the neurological system. Ataxia-telangiectasia is an autosomal recessive genetic disorder caused by a mutation in the ATM gene (ATM serine/threonine kinase or the ataxia-telangiectasia mutated gene). Ataxia-telangiectasia se diagnostican erróneamente de manera inicial como parálisis cerebral debido a la rara aparición de la enfermedad y la aparición de síntomas motores antes de la aparición de la telangiectasia Telangiectasia Permanent dilation of preexisting blood vessels creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders. Chronic Venous Insufficiency. La fisioterapia y los LOS Neisseria relajantes musculares son importantes en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum el tratamiento.
• Ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia de Friedreich: una enfermedad hereditaria rara que se presenta con daño neurológico progresivo, marcha inestable y alteraciones del movimiento. El diagnóstico se basa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la presentación clínica y los LOS Neisseria antecedentes detallados del individuo. El tratamiento se dirige en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum gran medida al AL Amyloidosis tratamiento de los LOS Neisseria síntomas.
• Síndrome de rotura de Nijmegen: un trastorno genético caracterizado por microcefalia progresiva, retraso del crecimiento intrauterino y talla baja, infecciones sinopulmonares recurrentes, mayor riesgo de cáncer e insuficiencia ovárica prematura. El diagnóstico se basa en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum la presentación clínica y en EN Erythema nodosum is an immune-mediated panniculitis (inflammation of the subcutaneous fat) caused by a type IV (delayed-type) hypersensitivity reaction. It commonly manifests in young women as tender, erythematous nodules on the shins. Erythema Nodosum las pruebas genéticas moleculares. El tratamiento incluye suplementos vitamínicos, terapia con inmunoglobulinas y tratamiento sintomático.