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Progressive dysphagia in limb-girdle muscular dystrophy type 2B
Richard Walsh1, Fiona Hill, Niall Breslin
1Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.
Muscle & Nerve
|April 13, 2011
Summary
Dysphagia, or swallowing difficulty, is now recognized as a symptom of limb-girdle muscular dystrophy type 2B (LGMD2B). This finding expands the known symptoms associated with dysferlin gene mutations.
Area of Science:
- Neurology
- Genetics
- Gastroenterology
Background:
- Limb-girdle muscular dystrophy type 2B (LGMD2B) is a rare genetic neuromuscular disorder.
- LGMD2B is caused by mutations in the dysferlin gene.
- Dysphagia has not been previously reported in LGMD2B patients.
Observation:
- A 40-year-old woman presented with progressive limb weakness and subsequent dysphagia.
- The patient experienced difficulty swallowing solids and liquids.
- Endoscopic and videofluoroscopic evaluations revealed a myopathic swallowing disorder.
Findings:
- Genetic analysis confirmed the patient had two dysferlin gene mutations, consistent with a compound heterozygote state.
- The patient's symptoms align with LGMD2B, but include the novel presentation of dysphagia.
Implications:
- Dysphagia should be considered a potential symptom within the spectrum of dysferlinopathies.
- This finding broadens the clinical understanding of LGMD2B.
- Further research is warranted to investigate the prevalence and mechanisms of dysphagia in LGMD2B.
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