A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy.

charcot-marie-tooth disease type 4c fasciculations motor neuropathy rare variants sh3tc2 gene

Journal

Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737

Informations de publication

Date de publication:
Apr 2024
Historique:
accepted: 31 03 2024
medline: 6 5 2024
pubmed: 6 5 2024
entrez: 6 5 2024
Statut: epublish

Résumé

We report an unusual patient who, at age 47 years, had presented with complaints of muscle fasciculations. After neurological examination and electromyogram testing, he was diagnosed with motor neuropathy. Over the next 10 years, in addition to fasciculations, he developed numbness in his feet without any other symptoms. His current neurological examination at age 57 years was normal, except for mildly decreased light touch in the anterior portion of both feet. The nerve conduction studies performed repeatedly showed sensorimotor polyneuropathy with demyelination features. Blood tests, including anti-ganglioside antibodies, were normal. Genetic testing revealed two rare variants in

Identifiants

pubmed: 38707135
doi: 10.7759/cureus.57550
pmc: PMC11066706
doi:

Types de publication

Case Reports

Langues

eng

Pagination

e57550

Informations de copyright

Copyright © 2024, Peddareddygari et al.

Déclaration de conflit d'intérêts

The authors have declared that no competing interests exist.

Auteurs

Leema Reddy Peddareddygari (LR)

Research and Development, Dynamic Biologics Inc., Monmouth Junction, USA.

Raji P Grewal (RP)

Neurosciences, Capital Health Institute for Neurosciences, Bordentown, USA.
Research and Development, Dynamic Biologics Inc., Monmouth Junction, USA.

Classifications MeSH