Lower motor neuron syndrome with late-adult onset
ORPHA:276435DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)1
HP:0009053Distal lower limb muscle weakness
Частый (30–79%)11
HP:0001265Hyporeflexia
HP:0001284Areflexia
HP:0001288Gait disturbance
HP:0002380Fasciculations
HP:0003236Elevated circulating creatine kinase concentration
HP:0003445EMG: neuropathic changes
HP:0003449Cold-induced muscle cramps
HP:0003710Exercise-induced muscle cramps
HP:0008985Increased intramuscular fat
HP:0008994Proximal muscle weakness in lower limbs
HP:0031921Gastrocnemius myalgia
Периодический (5–29%)10
HP:0001308Tongue fasciculations
HP:0001337Tremor
HP:0002015Dysphagia
HP:0003200Ragged-red muscle fibers
HP:0003458EMG: myopathic abnormalities
HP:0003805Rimmed vacuoles
HP:0006886Impaired distal vibration sensation
HP:0008954Intrinsic hand muscle atrophy
HP:0008997Proximal muscle weakness in upper limbs
HP:0040132Abnormal sensory nerve conduction velocity
Очень редкий (1–4%)3
HP:0002086Abnormality of the respiratory system
HP:0002483Bulbar signs
HP:0002540Inability to walk
Исключён (0%)1
HP:0002493Upper motor neuron dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 55 | 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)