Limb Girdle Muscular Dystrophy in Early Childhood- Clinical Heterogeneity and Clue to Early Diagnosis

Abstract

BACKGROUND The aim of the study is to evaluate the clinical profile of early-childhood Limb Girdle Muscular Dystrophy (LGMD) and to determine the phenotype and age of manifestation. MATERIALS AND METHODS It is a retrospective, descriptive, observational study; data collected by hospital-chart review, in University Hospital of South India. Children with muscle-biopsy proven children with dystrophy, with symptom-onset of less than or equal to five years were included. RESULTS Eight had onset at or below two years, fourteen between two to five. Of early-onset cases, seven did not have definite referral diagnosis presented with delayed milestones. Phenotypically all were Duchenne Muscular Dystrophy (DMD). Other types of LGMD were not recognized. CONCLUSION Early diagnostic suspicion of muscular dystrophy, (especially DMD, which is having genetic implications and treatable to limited extent), should be emphasized in those with delayed milestones. Neonatal screening of DMD is not recommended universally. It is important to have clinical suspicion very early in life, as DMD presents as delayed milestones. Serum CK estimation helping in diagnosis, can be followed by genetic testing or muscle biopsy with immunostaining. Calf hypertrophy adds weightage to diagnostic suspicion. Early diagnosis will contribute to genetic counselling and treatment will slow disease progression, improve quality and life expectancy.