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Neuromuscular involvement in glycogen storage disease type III
Acta Paediatrica Scandinavica
|March 1, 1986
Summary
Glycogen storage disease type III (GSD III) often causes widespread myopathy with varied severity. While most patients show muscle impairment and elevated CPK, peripheral neuropathy is rare, though cardiomyopathy is common.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Glycogen storage disease type III (GSD III) is a rare genetic disorder affecting glycogen metabolism.
- Understanding the full spectrum of GSD III's impact on neuromuscular function is crucial for patient management.
Purpose of the Study:
- To comprehensively evaluate the neuromuscular involvement in a cohort of patients with GSD III.
- To characterize the prevalence and severity of myopathy, neuropathy, and cardiomyopathy in GSD III.
Main Methods:
- Detailed neuromuscular evaluations were performed on 16 patients aged 3-22 years.
- Included assessments: skeletal muscle function, serum creatinine phosphokinase (CPK) levels, electromyography (EMG), and muscle biopsies.
- Cardiac function was assessed via electrocardiography and/or echocardiography.
Main Results:
- All patients exhibited elevated serum CPK levels.
- Muscle biopsies confirmed amylo-1,6-glucosidase deficiency and glycogen accumulation.
- Myopathic patterns on EMG were observed in most patients; peripheral neuropathy was rare but present in one case.
- Cardiomyopathy was detected in 15 patients.
Conclusions:
- GSD III is associated with a heterogeneous and widespread myopathy.
- While muscle involvement is common, peripheral neuropathy is infrequently encountered.
- Cardiomyopathy is a frequent comorbidity in GSD III patients.