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Spinal muscular atrophy and hypertrophy of the calves
Journal of the Neurological Sciences
|January 1, 1980
Insights
Proximal spinal muscular atrophy in males can present with calf hypertrophy and elevated creatine kinase (CK) levels. This specific combination was not observed in female patients within the study cohort.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder.
- Proximal SMA affects motor neurons, leading to muscle weakness.
- Calf hypertrophy is an unusual finding in SMA patients.
Purpose of the Study:
- To investigate the prevalence and characteristics of calf hypertrophy in patients with proximal spinal muscular atrophy.
- To determine if calf hypertrophy is associated with specific demographic or clinical features in SMA.
Main Methods:
- Retrospective analysis of 100 patients diagnosed with proximal spinal muscular atrophy.
- Clinical examination to identify calf hypertrophy.
- Measurement of serum creatine kinase (CK) activity.
Main Results:
- Twenty-three out of 100 SMA patients exhibited calf hypertrophy.
- All patients with calf hypertrophy were male.
- Elevated serum CK activity was observed in all male patients with calf hypertrophy.
- The combination of SMA, calf hypertrophy, and elevated CK was absent in female patients.
Conclusions:
- Calf hypertrophy in proximal spinal muscular atrophy is a sex-specific finding, predominantly observed in males.
- This presentation may indicate a distinct subtype or phenotype within male SMA patients.
- Further research is warranted to understand the underlying mechanisms of this association.
Abstract:
In 100 patients (59 males and 41 females) suffering from proximal spinal muscular atrophy, 23 presented with hypertrophy of the calves. These were all males. They all showed an elevation of serum CK-activity. The combination of spinal muscular atrophy, hypertrophy of the calves and elevated serum CK activity was not found in females.