Jokela type spinal muscular atrophy
neuromuscular disease
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Summary
Jokela type spinal muscular atrophy is a rare disease[1]. It is known by 10 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: spinal muscular atrophies[4], nervous system heredodegenerative disease[5]
- Prevalence: 0.000001[6]
- Genetic association: CHCHD10[7]
- Age of onset: adult onset[8]
- Exact match: http://www.orpha.net/ORDO/Orphanet_276435[9]
- Has phenotype: hyporeflexia[10], gait abnormality[11], fasciculation[12], Q141815288[13], Q141815289[14], Q141815324[15], Q141815896[16], Q141816496[17], tremor[18], dysphagia[19], Q141815235[20], Q141815261[21], Q141815290[22], Q141815338[23]
- P14914: D276435[24]