Search results for "Muscle biopsy"
showing 2 items of 42 documents
G.P.232
2014
Spinal muscular atrophy (SMA) and Pompe disease (PD) are common neuromuscular disorders during childhood causing progressive weakness of proximal muscles with gait disturbances, loss of ambulation and breathing difficulties. Whereas SMA is the result of a neurogenic atrophy caused by mutations in the SMN1 gene, PD is a lysosomal glycogen storage disease (type II) due to mutations of the GAA gene responsible for the enzyme activity of acid alpha-1,4-glucosidase. PD is treatable by enzyme replacement therapy, but in SMA there is no established curable therapy. We report on a child with genetically proven SMA type III and PD caused by mutations in the SMN1 and GAA genes. A 3 years old girl pre…
Glucocorticoid-sensitive hereditary inclusion body myositis.
1996
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.