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 and verbal intelligence impairment. His genetic analysis showed a recessive splice-site mutation in the CLCN1 gene (IVS19+2T>A). Muscle MRI revealed a symmetric and bilateral fat infiltration of the tensor of fascia lata, gluteus medius, and gluteus maximus muscles, associated to mild atrophy.
DIAGNOSIS: Recessive myotonia congenita was diagnosed.
LESSONS: Further studies should establish if and to which extent the CLCN1 mutation is responsible for this c MC phenotype, taking into account a gene-gene and /or a gene-environment.
- Brain/diagnostic imaging
- Chloride Channels/genetics
- Cognitive Dysfunction/diagnosis
- Genetic Testing/methods
- Magnetic Resonance Imaging/methods
- Middle Aged
- Muscle Weakness/diagnosis
- Muscle, Skeletal/diagnostic imaging
- Muscular Atrophy/diagnosis
- Myotonia Congenita/complications