HMSN + Systemic, CNS or Cranial nerve Disorders: Dominant, Axonal

Autosomal DominantDe NovoAutosomal RecessiveNeuropathy (Hereditary)OMIM 600361

time/hmsn.html#HMSN + Systemic, CNS or Cranial nerve Disorders: Dominant, A

Overview

From WUSTL Neuromuscular

HMSN + Pyramidal features (HMSN 5) 7 ● Chromosome 4q34.3-q35.2; Dominant Genetics Some patients with MFN2 mutations: H165D KIF5A mutations Clinical Onset: 2nd decade or later Weakness: Distal; Legs > Arms Upper motor neuron Extensor plantar responses Tendon reflexes: Brisk (60%) Spasticity: Some patients, but usually mild Sensory Loss: Distal legs; Symmetric Pain: Legs; Most patients Progression Slow Little disability in most patients Occasional patients in wheelchair by 10 years Laboratory Electrophysiology: Axon loss Nerve pathology: Axon loss Also see: CMT + Upper motor neuron HMSN 129 ● Se

OMIM Entries

OMIM #600361 OMIM #611120 OMIM #118300 OMIM #603324 OMIM #165199 OMIM #620080 OMIM #130660

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.