Hereditary motor and sensory neuropathy, Okinawa type
ORPHA:90117DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)8
HP:0001284Areflexia
HP:0003474Somatic sensory dysfunction
HP:0003484Upper limb muscle weakness
HP:0007340Lower limb muscle weakness
HP:0011964Intermittent painful muscle spasms
HP:0012735Cough
HP:0030179Abnormal peripheral action potential amplitude
HP:0030200Fatiguable weakness of proximal limb muscles
Частый (30–79%)11
HP:0000079Abnormality of the urinary system
HP:0001337Tremor
HP:0002483Bulbar signs
HP:0002540Inability to walk
HP:0002936Distal sensory impairment
HP:0003236Elevated circulating creatine kinase concentration
HP:0003698Difficulty standing
HP:0007289Limb fasciculations
HP:0010546Muscle fibrillation
HP:0030007EMG: positive sharp waves
HP:0031910Abnormal cranial nerve physiology
Периодический (5–29%)9
HP:0002015Dysphagia
HP:0002094Dyspnea
HP:0002878Respiratory failure
HP:0004887Respiratory failure requiring assisted ventilation
HP:0010827Abnormality of the seventh cranial nerve
HP:0011014Abnormal glucose homeostasis
HP:0011470Nasogastric tube feeding in infancy
HP:0011951Aspiration pneumonia
HP:0410262Lower cranial nerve dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 120 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)