MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
ORPHA:397744DiseaseAutosomal dominantChildhood
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)14
HP:0000762Decreased nerve conduction velocity
HP:0001265Hyporeflexia
HP:0001609Hoarse voice
HP:0003198Myopathy
HP:0003458EMG: myopathic abnormalities
HP:0003557Increased variability in muscle fiber diameter
HP:0007340Lower limb muscle weakness
HP:0008180Mildly elevated creatine kinase
HP:0008619Bilateral sensorineural hearing impairment
HP:0009063Progressive distal muscle weakness
HP:0009830Peripheral neuropathy
HP:0010219Structural foot deformity
HP:0012548Fatty replacement of skeletal muscle
HP:0030774Mitochondrial swelling
Периодический (5–29%)3
HP:0001284Areflexia
HP:0001337Tremor
HP:0003701Proximal muscle weakness
Очень редкий (1–4%)2
HP:0001250Seizure
HP:0001369Arthritis
Исключён (0%)2
HP:0001605Vocal cord paralysis
HP:0002015Dysphagia
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)