Limb Muscular dystrophy is most common and severe type of muscular dystrophy. It affects one in 3500 boys. These are inherited group of progressive myopathic disorders which are formed due to defective number of genes required for normal muscle function.
Limb Muscular Dystrophy are mainly of these types:
LGMD2A (calpainopathy), LGMD2B (dysferlinopathy), Sarcoglycanopathies (LGMD2C-2F), LGMD2G (telethoninopathy), LGMD2H (tripartite motif–containing gene 32 [TRIM32]–related dystrophy), LGMD2I (fukutin-related proteinopathy), LGMD2J (titinopathy), LGMD2K, LGMD2L, LGMD1A (myotilinopathy, also Myofibrillar myopathes), LGMD1B (laminopathy, allelic with autosomal dominant Emery-Dreifuss muscular dystrophy), LGMD1C (caveolinopathy), LGMD1D (Online Mendelian Inheritance in Man [OMIM] %603511), LGMD1E (Dilated cardiomyopathy with conduction defect and muscular dystrophy, OMIM %602067), LGMD1F, LGMD1G.
Darin N and his colleagues from Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden has found a positive response towards an experiment done on limb girdle Muscular Dystrophy 2I, the most common LGMD in childhood.
LGMD type 2I is caused due to the mutations in the Fukutin related protein gene (FKRP). In addition to L276I mutation, they found new type of mutation in FKRP, L169P and P89L genes. Clinical onset was triggered by viral upper respiratory tract infections. In addition to common dystrophic pattern with weak histochemical staining for Alpha Dystroglycan, muscle biopsy showed inflammatory changes.
When treated with Prednisolone on two patients, they showed positive clinical response. Initially they were given daily dosage of 0.35 mg/kg/day.
Concluding that the disorder involving inflammatory involvement in the pathological expression of LGMD2I could be treated by Corticosteroids.
Source: emedicine, NCBI, UpToDate for patients