Miyoshi myopathy
ORPHA:45448DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)25
Частый (30–79%)14
HP:0001288Gait disturbance
HP:0003547Shoulder girdle muscle weakness
HP:0003551Difficulty climbing stairs
HP:0003698Difficulty standing
HP:0003731Quadriceps muscle weakness
HP:0003738Exercise-induced myalgia
HP:0003749Pelvic girdle muscle weakness
HP:0007126Proximal amyotrophy
HP:0007149Distal upper limb amyotrophy
HP:0008944Distal lower limb amyotrophy
HP:0008963Tibialis muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0009053Distal lower limb muscle weakness
HP:0011399Tibialis atrophy
Периодический (5–29%)7
HP:0002505Loss of ambulation
HP:0003326Myalgia
HP:0008981Calf muscle hypertrophy
HP:0009027Foot dorsiflexor weakness
HP:0030051Tip-toe gait
HP:0031108Triceps weakness
HP:0200101Decreased/absent ankle reflexes
Исключён (0%)4
HP:0001626Abnormality of the cardiovascular system
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003552Muscle stiffness
HP:0008954Intrinsic hand muscle atrophy
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.22 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.26 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)