2J girdle muscular dystrophy, bibliographic review and report of a pediatric case in Ecuador

Abstract

Limb girdle muscular dystrophy (LGMD) includes several disorders with heterogeneous etiologies. They are inherited in an autosomal recessive or autosomal dominant pattern and constitute the fourth most common genetic cause of muscle weakness, reporting a prevalence of 1 in 20,000. The clinical manifestations are nonspecific, can begin from early childhood to adulthood depending on the subtype of the disease and the protein affected. The initial diagnosis is made by genetic testing before obtaining a muscle biopsy. To date there are no treatments that modify the evolution of the disease. The purpose of therapy is to preserve functional independence and treat associated complications, maintaining quality of life as much as possible. The following is the case of a pediatric patient, resident in Quito, Ecuador with no prior family or pathological history, with progressive fine motor disorder due to motor disorder in the hands, flexed fingers, hypotrophy of tenar and hypothenar eminences, and atrophy of interosseous hands, studies are performed in relation to distal peripheral neuropathy with bilateral and symmetrical sensitivity involvement, finding electromyographic changes as the only variant: chronic, sensitive and motor polyneuropathy with axonal predominance (demyelinating to a lesser degree), of marked degree presumably of hereditary etiology. The final diagnosis was determined by a genetic study with a mutation of the TTN gene in relation to: Girdle Muscular dystrophy, type 2J (DISTAL PREDOMINANT SCAPULAR GIRDLE).