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Inherited metabolic disease

G236 DIAGNOSING LATE ONSET POMPE’S DISEASE
S. K. Sandhu, G. P. Sinha.Walsall Manor Hospital NHS Trust, West Midlands, UK

Background: Pompe’s disease is an autosomal recessive disorder in which a deficiency in the enzyme acid alpha-1,4-glucosidase (acid maltase) results in the intralysosomal accumulation of glycogen and the subsequent destruction of muscle tissue. Complete deficiency of this enzyme causes a rapidly progressive fatal cardiac and skeletal muscle disorder known as infantile Pompe’s disease. Partial deficiency leads to a milder late onset proximal myopathy with symptoms restricted to skeletal muscle.

Case Study: We present a family in which both father and son presented simultaneously with progressive muscle weakness. The son first presented to us with a failure to achieve major gross motor developmental milestones. He was able to walk independently at the age of 18 months, but had difficulty in standing from the sitting/lying position, climbing stairs, and in running. During a detailed neuromuscular assessment he was . . . [Full text of this article]