Hereditary motor and sensory neuropathy with proximal dominance
MeSH: C535717ORPHA: 90117
Overview
medical condition
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 Hereditary motor and sensory neuropathy with proximal dominance, sourced from HPO and Orphanet clinical annotations.
AreflexiaSomatic sensory dysfunctionUpper limb muscle weaknessLower limb muscle weaknessIntermittent painful muscle spasmsCoughAbnormal peripheral action potential amplitudeFatiguable weakness of proximal limb musclesAbnormality of the urinary systemTremorBulbar signsInability to walkDistal sensory impairmentElevated circulating creatine kinase concentrationDifficulty standingLimb fasciculationsMuscle fibrillationEMG: positive sharp wavesAbnormal cranial nerve physiologyDysphagiaDyspneaRespiratory failureRespiratory failure requiring assisted ventilationAbnormal seventh cranial physiologyAbnormal glucose homeostasisNasogastric tube feeding in infancyAspiration pneumoniaLower cranial nerve dysfunction
Classification & Codes
MeSH Code
C535717Orphanet Code
ORPHA:90117Hereditary motor and sensory neuropathy with proximal dominance
| MeSH | C535717 |
| Orphanet | ORPHA:90117 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO