Machado-Joseph disease type 3
ORPHA:276244Clinical subtypeAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)4
HP:0000590Progressive external ophthalmoplegia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002073Progressive cerebellar ataxia
HP:0008944Distal lower limb amyotrophy
Частый (30–79%)25
HP:0003487Babinski sign
HP:0007089Facial-lingual fasciculations
HP:0007240Progressive gait ataxia
HP:0007256Abnormal pyramidal sign
HP:0011960Substantia nigra gliosis
HP:0040140Degeneration of the striatum
HP:0000520Proptosis
HP:0000623Supranuclear ophthalmoplegia
HP:0000640Gaze-evoked nystagmus
HP:0000651Diplopia
HP:0000750Delayed speech and language development
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001332Dystonia
HP:0001347Hyperreflexia
HP:0002198Dilated fourth ventricle
HP:0002312Clumsiness
HP:0002366Abnormal lower motor neuron morphology
HP:0002398Degeneration of anterior horn cells
HP:0002460Distal muscle weakness
HP:0002493Upper motor neuron dysfunction
HP:0002503Spinocerebellar tract degeneration
HP:0003202Skeletal muscle atrophy
HP:0003457EMG abnormality
Периодический (5–29%)9
HP:0000011Neurogenic bladder
HP:0001605Vocal cord paralysis
HP:0001751Abnormal vestibular function
HP:0002015Dysphagia
HP:0002354Memory impairment
HP:0002360Sleep abnormality
HP:0003394Muscle spasm
HP:0003477Peripheral axonal neuropathy
HP:0004370Abnormality of temperature regulation
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)