Abstract
HINT1 gene mutations cause an axonal neuropathy with some specific findings including presence
of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and
primary motor involvement. In this case report, we described an 18-year-old female
patient who presented to the clinic with gait instability and muscle stiffness. A
homozygous novel c.180_181delAT (p.Ser61Profs*8) variant in the HINT1 gene was found by clinical exome analysis. Parents were heterozygous for the same
variant. The patient was diagnosed with autosomal recessive axonal neuropathy with
neuromyotonia. The presence of neuromyotonia must be evaluated in patients with hereditary
axonal neuropathies as this can help the diagnosis prior to genetic testing.
Keywords
HINT1 gene - axonal neuropathy - neuromyotonia
