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

• 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.

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.