Vocal cord and pharyngeal distal myopathy
ORPHA:600DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)30
Частый (30–79%)23
HP:0001260Dysarthria
HP:0001283Bulbar palsy
HP:0001347Hyperreflexia
HP:0001430Abnormality of the calf musculature
HP:0001604Vocal cord paresis
HP:0001609Hoarse voice
HP:0001611Hypernasal speech
HP:0001621Weak voice
HP:0002015Dysphagia
HP:0002317Unsteady gait
HP:0002460Distal muscle weakness
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002835Aspiration
HP:0003457EMG abnormality
HP:0003738Exercise-induced myalgia
HP:0003805Rimmed vacuoles
HP:0005934Imperfect vocal cord adduction
HP:0007354Amyotrophic lateral sclerosis
HP:0008180Mildly elevated creatine kinase
HP:0008756Bowing of the vocal cords
HP:0031374Ankle weakness
HP:0430015Abnormal morphology of musculature of pharynx
HP:0001288Gait disturbance
Периодический (5–29%)3
HP:0003547Shoulder girdle muscle weakness
HP:0007149Distal upper limb amyotrophy
HP:0008049Abnormality of the extraocular muscles
Очень редкий (1–4%)3
HP:0000726Dementia
HP:0000762Decreased nerve conduction velocity
HP:0002936Distal sensory impairment
Исключён (0%)1
HP:0009071Inflammatory myopathy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)