adenylosuccinate synthetase-like 1-related distal myopathy
ORPHA: 482601
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with adenylosuccinate synthetase-like 1-related distal myopathy, sourced from HPO and Orphanet clinical annotations.
Unsteady gaitElevated circulating creatine kinase concentrationEMG: myopathic abnormalitiesReduced tendon reflexesRestrictive ventilatory defectDifficulty climbing stairsGeneralized amyotrophyQuadriceps muscle weaknessRimmed vacuolesLower limb amyotrophyDistal lower limb amyotrophyDistal upper limb muscle weaknessProximal lower limb muscle weaknessFoot dorsiflexor weaknessDifficulty runningQuadriceps muscle atrophyDistal lower limb muscle weaknessUpper limb amyotrophyTip-toe gaitFatigable weakness of chewing musclesWeakness of facial musculatureTriceps weaknessInternally nucleated skeletal muscle fibersReduced forced vital capacityElbow contractureAnkle contractureHigh palateHypertrophic cardiomyopathyFrequent fallsInability to walkSteppage gaitNemaline bodiesDecreased Achilles reflexFatty replacement of skeletal musclePseudobulbar signsImpaired mastication
Classification & Codes
Orphanet Code
ORPHA:482601adenylosuccinate synthetase-like 1-related distal myopathy
| Orphanet | ORPHA:482601 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO