Clinical case of a patient with autosomal recessive axonal neuropathy and neuromyotonia
https://doi.org/10.66825/2949-4664-apps-4-2-63-70
Abstract
Autosomal recessive axonal peripheral neuropathy with neuromyotonia (ARAN-NM) is a rare form of hereditary motor-sensory neuropathy belonging to the spectrum of Charcot Marie–Tooth disease (CMT). The condition is associated with biallelic loss of function mutations in the HINT1 gene. Clinically, ARAN NM is characterized by onset in the first or second decade of life, progressive distal weakness and atrophy of the lower limb muscles, gait impairment, and foot deformities. Approximately 80% of patients exhibit neuromyotonia – delayed muscle relaxation, stiffness, cramps, and fasciculations that worsen with cold exposure. The main instrumental diagnostic methods are stimulation electroneuromyography (ENMG) and needle electromyography (EMG), which reveal an axonal pattern of damage and neuromyotonic discharges. Currently, no disease modifying therapy is available. The first line drug for relieving neuromyotonia is carbamazepine. Non pharmacological rehabilitation, including therapeutic exercise, physiotherapy, and orthopaedic correction of foot deformities, plays a significant role in the comprehensive medical management of children with ARAN NM.
About the Authors
F. I. Nakhusheva
Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Fatima I. Nakhusheva, head of the 3rd psychoneurological department of the children’s psychoneurological center for children with central nervous systemlesions and mental disorders
Building 1, house 24а Kominterna str., Mytishchi,, 141009
Competing Interests:
The authors declare that they have no conflicts of interest.
A. V. Serov
Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Artem V. Serov, neurologist at the 3rd psychoneurological department of the children’s psychoneurological center for children with central nervous system lesions and mental disorders
Building 1, house 24а Kominterna str., Mytishchi,, 141009
Competing Interests:
The authors declare that they have no conflicts of interest.
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Review
For citations:
Nakhusheva F.I., Serov A.V. Clinical case of a patient with autosomal recessive axonal neuropathy and neuromyotonia. Archives of Pediatrics and Pediatric Surgery. 2026;4(2):63-70. (In Russ.) https://doi.org/10.66825/2949-4664-apps-4-2-63-70
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