Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.

Abstract

Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene (FKRP), is one of the most common forms of LGMD in childhood. We describe two patients with LGMD2I and a Duchenne-like phenotype. In addition to the common L276I mutation, both patients had a new mutation in FKRP, L169P and P89L, respectively. Clinical onset was triggered by viral upper respiratory tract infections. In addition to the common dystrophic pattern with a weak immune histochemical staining for alpha-dystroglycan, muscle biopsy showed inflammatory changes. This was especially striking in one of the patients with up-regulation of MHC class 1 antigen, suggestive of myositis. Both patients showed a good clinical response to treatment with prednisolone, which was initiated at daily dosage of 0.35 mg/kg/day. Our results provide evidence for an inflammatory involvement in the pathological expression of LGMD2I and open up the possibility that this disorder could be treatable with corticosteroids.

• Authors: N Darin, A-K Kroksmark, A-C Ahlander, A-R Moslemi, A Oldfors, M Tulinius
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 11 Issue 6 Pg. 353-7 (Nov 2007) ISSN: 1090-3798 [Print] England
• PMID: 17446099 (Publication Type: Clinical Trial, Journal Article)

Chemical References

• Proteins
• Steroids
• Dystroglycans
• FKRP protein, human
• Pentosyltransferases

Topics

• Adolescent
• Child
• DNA Mutational Analysis
• Dystroglycans (metabolism)
• Humans
• Inflammation (drug therapy, etiology, genetics, pathology)
• Longitudinal Studies
• Male
• Muscular Dystrophies, Limb-Girdle (complications, drug therapy, genetics, pathology)
• Mutation
• Pentosyltransferases
• Proteins (genetics)
• Steroids (therapeutic use)