A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?

ABSTRACT:

Rationale

Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear.

Patient concerns

A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function.

Interventions

The patient was submitted to cognitive assessment, needle electromyography, brain and muscle MRI, and genetic analysis.

Outcomes

The Milan Overall Dementia Assessment showed short-term memory, verbal fluency

SUBMITTER: Portaro S 

PROVIDER: S-EPMC6392771 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature