Late-onset distal myopathy, Markesbery-Griggs type
ORPHA:98912DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)21
Частый (30–79%)3
HP:0008954Intrinsic hand muscle atrophy
HP:0009073Progressive proximal muscle weakness
HP:0030198Fatigable weakness of distal limb muscles
Периодический (5–29%)6
HP:0001626Abnormality of the cardiovascular system
HP:0008969Leg muscle stiffness
HP:0009005Weakness of the intrinsic hand muscles
HP:0009077Weakness of long finger extensor muscles
HP:0031189Wrist drop
HP:0031374Ankle weakness
Очень редкий (1–4%)11
HP:0001288Gait disturbance
HP:0001638Cardiomyopathy
HP:0003324Generalized muscle weakness
HP:0003325Limb-girdle muscle weakness
HP:0005162Abnormal left ventricular function
HP:0008997Proximal muscle weakness in upper limbs
HP:0009027Foot dorsiflexor weakness
HP:0009072Decreased Achilles reflex
HP:0009830Peripheral neuropathy
HP:0011808Decreased patellar reflex
HP:0012722Heart block
Исключён (0%)1
HP:0002505Loss of ambulation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 11 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)