Atypical presentation of Charcot–Marie–Tooth disease 1A: A case report

Highlights • Cranial nerve involvement is rare in CMT1. • We report clinical cranial nerve involvement (hypoglossal and glossopharyngeal) in a genetically confirmed CMT1A patient. • Predominant and asymmetrical involvement of the upper limbs seen in our patient is seldom found in CMT1A.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2015-11, Vol.25 (11), p.916-919
Main Authors: Kulkarni, Shilpa D, Sayed, Rafat, Garg, Meenal, Patil, Varsha A
Format: Article
Language:English
Subjects:
Adolescent
Asymmetry
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - pathology
Charcot-Marie-Tooth Disease - physiopathology
Charcot–Marie–Tooth 1A
Charcot–Marie–Tooth disease
Cranial nerve involvement
Diagnosis, Differential
Hereditary motor and sensory neuropathy
Humans
Male
Median Nerve - physiopathology
Neurology
PMP22 gene
Tongue - pathology
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Description
Summary:Highlights • Cranial nerve involvement is rare in CMT1. • We report clinical cranial nerve involvement (hypoglossal and glossopharyngeal) in a genetically confirmed CMT1A patient. • Predominant and asymmetrical involvement of the upper limbs seen in our patient is seldom found in CMT1A.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.09.002