Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report.
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.
['Kulkarni|Shilpa D|SD|', 'Sayed|Rafat|R|', 'Garg|Meenal|M|', 'Patil|Varsha A|VA|']
D000293:Adolescent D002607:Charcot-Marie-Tooth Disease D003937:Diagnosis, Differential D006801:Humans D008297:Male D008475:Median Nerve D014059:Tongue
PMP22 gene Asymmetry Charcot–Marie–Tooth 1A Charcot–Marie–Tooth disease Cranial nerve involvement Hereditary motor and sensory neuropathy