Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I.
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.
Darin
N
N
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden. niklas.darin@vgregion.se
Kroksmark
A-K
AK
Ahlander
A-C
AC
Moslemi
A-R
AR
Oldfors
A
A
Tulinius
M
M
D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D049030:Dystroglycans / Q000378:metabolism; D006801:Humans; D007249:Inflammation / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008137:Longitudinal Studies; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics; D013256:Steroids / Q000627:therapeutic use*
D011506:Proteins; D013256:Steroids; D049030:Dystroglycans; C443107:FKRP protein, human; D010430:Pentosyltransferases