Finnish upper limb-onset distal myopathy
ORPHA: 399086
Overview
rare genetic 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 Finnish upper limb-onset distal myopathy, 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:399086Finnish upper limb-onset distal myopathy
| 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