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Limb Girdle Muscular Dystrophy with Cardiac Conduction Block

Sreenivasa rao sudulagunta, Jayadevappa Gonivada, Shyamala Krishnaswamy Kothandapani, Mahesh Babu Sodalagunta

Abstract


Introduction: Limb-girdle muscular dystrophy refers to disorders that cause wasting and weakness of the muscles around the shoulders and hips with autosomal pattern of inheritance. Most common features are muscle weakness and atrophy, myoglobinuria, myotonia, elevated serum kinase, and cardiomyopathy in about 20% cases.

Case Report: We report a sporadic case in an 18 year old male patient, who presented with complaints of difficulty in walking on toes, squatting, climbing stairs and breathlessness on exertion since 6 months. Examination revealed weakness of shoulder girdle and hip muscles bilaterally with achilles tendon contractures. Investigations revealed creatine kinase of 1870IU/L, normal blood counts, ESR and CRP. Thyroid profile was normal. MRI spine was normal. Nerve conduction study was normal. Electromyography showed short duration, low-amplitude motor unit potentials, increased proportion of polyphasic potentials, and early recruitment with a full interference pattern. ECG showed incomplete left bundle branch block. Echocardiography showed generalized hypokinesia with ejection fraction of 40%. Quadriceps muscle biopsy confirmed muscular dystrophy.

Conclusion: Cardiac conduction abnormalities are rarely reported in cases of limb girdle muscular dystrophy. Automated LGMD Diagnostic Assistant (ALDA) suggests patient has medium probability and concordance of LGMD subtypes LGMD2G (36.90) and LGMD2I (23.92). Genetic study confirmed LGMD2G.


Keywords


Distal muscular atrophy; proximal muscle weakness; Contracture; Incomplete Left Bundle Branch conduction block

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