Adenylosuccinate synthetase-like 1-related distal myopathy
ORPHA:482601DiseaseAutosomal recessiveAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)3
HP:0002317Unsteady gait
HP:0003236Elevated circulating creatine kinase concentration
HP:0003458EMG: myopathic abnormalities
Частый (30–79%)23
HP:0001315Reduced tendon reflexes
HP:0002091Restrictive ventilatory defect
HP:0003551Difficulty climbing stairs
HP:0003700Generalized amyotrophy
HP:0003731Quadriceps muscle weakness
HP:0003805Rimmed vacuoles
HP:0007210Lower limb amyotrophy
HP:0008944Distal lower limb amyotrophy
HP:0008959Distal upper limb muscle weakness
HP:0008994Proximal muscle weakness in lower limbs
HP:0009027Foot dorsiflexor weakness
HP:0009046Difficulty running
HP:0009050Quadriceps muscle atrophy
HP:0009053Distal lower limb muscle weakness
HP:0009129Upper limb amyotrophy
HP:0030051Tip-toe gait
HP:0030193Fatigable weakness of chewing muscles
HP:0030319Weakness of facial musculature
HP:0031108Triceps weakness
HP:0031237Internally nucleated skeletal muscle fibers
HP:0032341Reduced forced vital capacity
HP:0034391Elbow contracture
HP:0034677Ankle contracture
Периодический (5–29%)8
HP:0000218High palate
HP:0001639Hypertrophic cardiomyopathy
HP:0002359Frequent falls
HP:0002540Inability to walk
HP:0003376Steppage gait
HP:0003798Nemaline bodies
HP:0009072Decreased Achilles reflex
HP:0012548Fatty replacement of skeletal muscle
Очень редкий (1–4%)2
HP:0002200Pseudobulbar signs
HP:0005216Impaired mastication
Исключён (0%)1
HP:0003474Somatic sensory dysfunction
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)