Miyoshi muscular dystrophy
MeSH: C537480ORPHA: 45448
Overview
distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood
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 Miyoshi muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceShoulder girdle muscle weaknessDifficulty climbing stairsDifficulty standingQuadriceps muscle weaknessExercise-induced myalgiaPelvic girdle muscle weaknessProximal amyotrophyDistal upper limb amyotrophyDistal lower limb amyotrophyTibialis muscle weaknessProximal lower limb muscle weaknessDistal lower limb muscle weaknessTibialis anterior muscle atrophyLoss of ambulationMyalgiaCalf muscle hypertrophyFoot dorsiflexor weaknessTip-toe gaitTriceps weaknessDecreased/absent ankle reflexes
Classification & Codes
MeSH Code
C537480Orphanet Code
ORPHA:45448Miyoshi muscular dystrophy
| MeSH | C537480 |
| Orphanet | ORPHA:45448 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO