Proximal myopathy with extrapyramidal signs
ORPHA:401768DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)15
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0002072Chorea
HP:0002310Orofacial dyskinesia
HP:0002322Resting tremor
HP:0003557Increased variability in muscle fiber diameter
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0003701Proximal muscle weakness
HP:0004305Involuntary movements
HP:0007153Progressive extrapyramidal movement disorder
HP:0007158Progressive extrapyramidal muscular rigidity
HP:0009046Difficulty running
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0030230Central core regions in muscle fibers
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0000508Ptosis
HP:0000602Ophthalmoplegia
HP:0000648Optic atrophy
HP:0001251Ataxia
HP:0003477Peripheral axonal neuropathy
HP:0008180Mildly elevated creatine kinase
Исключён (0%)3
HP:0000365Hearing impairment
HP:0000831Insulin-resistant diabetes mellitus
HP:0001638Cardiomyopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)