distal muscular dystrophy 3
ORPHA: 399086
Overview
distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22
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 distal muscular dystrophy 3, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceClumsinessDistal sensory impairmentSteppage gaitEMG: myopathic abnormalitiesRimmed vacuolesMildly elevated creatine kinaseIntrinsic hand muscle atrophyWeakness of the intrinsic hand musclesAmyotrophy of ankle musculatureProgressive distal muscle weaknessJoint contracture of the handFatty replacement of skeletal muscleSplit handProgressive proximal muscle weakness
Classification & Codes
Orphanet Code
ORPHA:399086distal muscular dystrophy 3
| Orphanet | ORPHA:399086 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO