Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report.

ABSTRACT:

Background

Variants in the vaccinia-related kinase 1 (VRK1) gene have been linked to a spectrum of lower motor neuron disorders, typically characterised by distal muscle weakness and atrophy. Homozygous c.961C>T (p.Arg321Cys) is a rare mutation associated with a slowly progressive distal spinal muscular atrophy phenotype, usually presenting with normal or mildly elevated creatine kinase (CK) levels.

Case presentation

A 29-year-old man born to consanguineous parents presented with a 2 year history of progressive lower limb weakness. Examination revealed distal lower limb muscle wasting, absent ankle reflexes and brisk knee and upper limb reflexes. CK was elevated at 17 791 IU/L (normal<190). Neurophysiology showed a motor neuropathy with chronic active denervation, and MRI sh

SUBMITTER: Siriniwasa H 

PROVIDER: S-EPMC12684107 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature