Abstract
Pompe disease is a rare neuromuscular disorder associated with acid maltase deficiency. The severity of clinical manifestations and age of onset correlate with the type of mutation in the GAA gene and residual activity of lysosomal α-1,4-glucosidase. The infantile form of Pompe disease is characterized by hypertrophic cardiomyopathy, generalized muscle weakness, hypotonia, hepatomegaly and death from respiratory failure within the first year of life. Late-onset Pompe disease may develop at any age and affects skeletal muscle, causing slowly progressive muscle weakness and respiratory impairment. We report a case of late-onset Pompe disease in a 30-year-old female who was diagnosed only at 8 years after the onset of disease. The initial complaints were limited to difficulty in getting up from chairs and the need to help herself by hands. Diagnosis of Pompe disease was established by low α-1,4-glucosidase activity in dried blood spot and genetic testing that showed compound heterozygous mutations in the GAA gene (c.-32-13T>G and c.2104C>T).
Published Version
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