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:399086
Finnish upper limb-onset distal myopathy
OrphanetORPHA:399086
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Finnish upper limb-onset distal myopathy | OrphanDrug