Description of the largest cohort of patients with a rare form of LGMD

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An international consortium of researchers and clinicians has identified thirty patients with an excessively rare autosomal recessive limb girdle muscular dystrophy (LGMD type R6 linked to d-sarcoglycan deficiency). 

The clinical and biological data of twenty-three of them were collected and analyzed: 

  • the results illustrate the benefit of high throughput sequencing techniques for the diagnosis of LGMD in general; 
  • the evolution of LGMD R6 seems to be faster than the evolution observed in other forms of autosomal recessive LGMD;
  • the amount of residual protein visible on muscle sections and / or in Western blotting seems to correlate well with the evolutionary profile of the disease.

 

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy. Alonso-Pérez J, González-Quereda L, Bruno C, et al. Brain. 2021 (Sept).

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