A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.

ABSTRACT:

Case description

A 10-month-old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity.

Clinical findings

The cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short-strided, stiff gait.

Diagnostics

Electromyography (EMG) identified spontaneous discharges that waxed and waned in amplitude and frequency, consistent with myotonic discharges. A high impact 8-base pair (bp) deletion across the end of exon 3 and intron 3 of the chloride voltage-gated channel 1 (CLCN1) gene was identified using whole genome sequencing.

Treatment and outcome

Phenytoin treatment

SUBMITTER: Woelfel C 

PROVIDER: S-EPMC9308434 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature