Slovakian and Austrian clinicians report the case of a family in which dysferlin deficiency was identified at the same time as structural and functional cerebral anomalies:
- the non-consanguineous family included four individuals (two sisters and two brothers) with a predominantly distal muscle phenotype (Miyoshi type),
- two pathological variants of the DYSF gene were identified (c.4076T>C and c.2684+1dupG),
- a volumetric study of the brain coupled with NMR spectroscopy revealed a 232 mm3 asymmetric volume reduction at the base of the right ventricle, and functional abnormalities in the hippocampus and premotor cortex,
- these abnormalities disappeared after one month’s treatment with magnesium (400 mg/day).
Interesting though these studies are, they do not yet establish a causal link between dysferlin deficiency and damage to the central nervous system.
