Adult-onset distal myopathy due to VCP mutation
ORPHA:329478DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)1
HP:0002460Distal muscle weakness
Частый (30–79%)17
HP:0000726Dementia
HP:0001288Gait disturbance
HP:0001437Abnormality of the musculature of the lower limbs
HP:0002344Progressive neurologic deterioration
HP:0002359Frequent falls
HP:0002380Fasciculations
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0003458EMG: myopathic abnormalities
HP:0003691Scapular winging
HP:0003805Rimmed vacuoles
HP:0008180Mildly elevated creatine kinase
HP:0008954Intrinsic hand muscle atrophy
HP:0008978Necrotizing myopathy
HP:0009005Weakness of the intrinsic hand muscles
HP:0009027Foot dorsiflexor weakness
HP:0012548Fatty replacement of skeletal muscle
Периодический (5–29%)9
HP:0001337Tremor
HP:0001349Facial diplegia
HP:0002607Bowel incontinence
HP:0003418Back pain
HP:0000020Urinary incontinence
HP:0000716Depression
HP:0000739Anxiety
HP:0000762Decreased nerve conduction velocity
HP:0001300Parkinsonism
Очень редкий (1–4%)1
HP:0002792Reduced vital capacity
Исключён (0%)2
HP:0001638Cardiomyopathy
HP:0003701Proximal muscle weakness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)