FLNC-related handgrip and calf weakness-distal myopathy
ORPHA:63273DiseaseAutosomal dominantAdolescent, Adult
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)5
HP:0008954Intrinsic hand muscle atrophy
HP:0003738Exercise-induced myalgia
HP:0002600Hyporeflexia of lower limbs
HP:0002540Inability to walk
HP:0001288Gait disturbance
Частый (30–79%)7
HP:0031177Finger flexor weakness
HP:0009053Distal lower limb muscle weakness
HP:0009027Foot dorsiflexor weakness
HP:0006389Limited knee flexion
HP:0012515Hip flexor weakness
HP:0002141Gait imbalance
HP:0009046Difficulty running
Периодический (5–29%)7
HP:0008959Distal upper limb muscle weakness
HP:0030319Weakness of facial musculature
HP:0001626Abnormality of the cardiovascular system
HP:0030200Fatiguable weakness of proximal limb muscles
HP:0006135Decreased finger mobility
HP:0008994Proximal muscle weakness in lower limbs
HP:0001638Cardiomyopathy
Исключён (0%)3
HP:0002015Dysphagia
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003474Somatic sensory dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)