Dysferlinopathies

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Late dysferlinopathy presenting as generalized permanent myalgia

The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]

Cerebral abnormalities in dysferlinopathies?

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 … [Read more]

Overview of neuromuscular diseases

After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]

Galectin-1: an innovative therapeutic approach in dysferlinopathies

American researchers have developed a therapy aimed at correcting the phenotypes observed in dysferlinopathies (Miyoshi-type distal myopathy and LGMD type R2). Galectin-1, a beta-like galactoside binding protein, was genetically engineered and injected into model mice:  galectin-1 is thought to play a role in membrane repair and inflammation, two mechanisms involved in dysferlinopathies;  in treated mice, … [Read more]

The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy

Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to Myoshi distal myopathy, the phenotype spectrum was rapidly extended to pure proximal forms such as limb-girdle muscular dystrophy (LGMD) R2, and especially to mixed proximal/distal forms. Dysferlinopathy is transmitted in … [Read more]