Jokela type spinal muscular atrophy
ORPHA: 276435
Overview
neuromuscular 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 Jokela type spinal muscular atrophy, sourced from HPO and Orphanet clinical annotations.
Distal lower limb muscle weaknessHyporeflexiaAreflexiaGait disturbanceFasciculationsElevated circulating creatine kinase concentrationEMG: neuropathic changesCold-induced muscle crampsExercise-induced muscle crampsIncreased intramuscular fatProximal lower limb muscle weaknessGastrocnemius myalgiaTongue fasciculationsTremorDysphagiaRagged-red muscle fibersEMG: myopathic abnormalitiesRimmed vacuolesImpaired distal vibration sensationIntrinsic hand muscle atrophyProximal upper limb muscle weaknessAbnormal sensory nerve conduction velocityAbnormality of the respiratory systemBulbar signsInability to walk
Classification & Codes
Orphanet Code
ORPHA:276435Jokela type spinal muscular atrophy
| Orphanet | ORPHA:276435 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO