distal myopathy, Nonaka type
ORPHA: 602
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 myopathy, Nonaka type, sourced from HPO and Orphanet clinical annotations.
Rimmed vacuolesLower limb muscle weaknessMildly elevated creatine kinaseTibialis muscle weaknessFoot dorsiflexor weaknessFatty replacement of skeletal muscleMuscle fiber inclusion bodiesHypothyroidismSteppage gaitAbsent Achilles reflexEMG: myopathic abnormalitiesShoulder girdle muscle weaknessIncreased variability in muscle fiber diameterLimited wrist extensionLimited shoulder movementHip flexor weaknessEMG: positive sharp wavesEMG: myotonic dischargesMuscle weaknessAbnormality of the foot musculatureScapular wingingShoulder girdle muscle atrophyLower limb amyotrophyFacial palsyAbnormal right hemidiaphragm morphologyCardiomyopathyWeakness of long finger extensor muscles
Classification & Codes
Orphanet Code
ORPHA:602distal myopathy, Nonaka type
| Orphanet | ORPHA:602 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO