Conduction block and temporal dispersion in a SIGMAR1-related neuropathy.
SIGMAR-1
dHMN
genetic diseases
multifocal motor neuropathy
neuromuscular diseases
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
revised:
01
10
2022
received:
18
08
2022
accepted:
03
10
2022
pubmed:
13
10
2022
medline:
6
12
2022
entrez:
12
10
2022
Statut:
ppublish
Résumé
The distal hereditary motor neuropathies (dHMN) encompass a group of peripheral nervous system disorders characterized by progressive distal predominant weakness and wasting, usually in a length-dependent pattern. The classical neurophysiological pattern is a motor axonal neuropathy with chronic distal denervation/reinnervation on needle examination. Conduction block (CB) and temporal dispersion (TD) are electrophysiological features classically associated with acquired demyelinating neuropathies. Although they have rarely been reported in hereditary neuropathies, to date they have not been described in dHMN. We report a sporadic case of a patient with neurophysiological criteria consistent with multifocal motor neuropathy with CB (MMN) refractory to immunomodulation. WES revealed a homozygous nonsense pathogenic variant in sigma nonopioid intracellular receptor-1 gene (SIGMAR1). SIGMAR1-related disorders have been reported with distinctive features suggesting it is not a typical length-dependent neuropathy. Nevertheless, CB and TD are unexpected and as far as we have known not been described previously in such patients. This case expands the neurophysiological spectrum of this disease and alerts clinicians to this acquired demyelinating motor neuropathy mimic.
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
316-319Subventions
Organisme : Medical Research Council
ID : MR/K000608/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S005021/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : (ICGNMD) MR/S005021/1
Pays : United Kingdom
Informations de copyright
© 2022 Peripheral Nerve Society.
Références
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