# Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

## TL;DR

A 7-year-old boy with a rare genetic disorder caused by a TRPV4 gene mutation is reported, showing symptoms like clubfoot and motor weakness.

## Contribution

This case report adds a new documented instance of TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII.

## Key findings

- A heterozygous missense mutation in the TRPV4 gene (c.805C>T) was identified in a 7-year-old male patient.
- The patient exhibits bilateral clubfoot deformity and inability to walk unaided despite normal cognitive function.
- The case contributes to understanding and early diagnosis of neuronopathy, distal hereditary motor, type VIII.

## Abstract

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing “inward turning of the feet”, a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient’s medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.