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Granulocyte dysfunction and myotonic dystrophy.
Journal of the Neurological Sciences
|March 1, 1986
Summary
Myotonic dystrophy (MD) patients frequently exhibit impaired granulocyte function, particularly chemotaxis. Severe immune defects are rare but can occur, necessitating granulocyte testing in infected MD patients.
Area of Science:
- Immunology
- Genetics
- Neurology
Background:
- Myotonic dystrophy (MD) is a multisystem disorder.
- Infections are a common complication in MD patients.
- Granulocyte dysfunction can increase infection susceptibility.
Observation:
- A 52-year-old male with MD presented with a lung abscess and cyclic neutropenia.
- Granulocyte function tests revealed defects in phagocytosis, bactericidal activity, and chemotaxis.
- Skin window studies confirmed in vivo granulocyte defects.
Findings:
- The patient's granulocyte defects improved with lithium carbonate treatment.
- Four of his children with abnormal granulocyte function showed definite MD.
- Twelve of 19 unrelated MD patients had impaired granulocyte function, primarily chemotaxis defects.
Implications:
- Mild granulocyte dysfunction is common in MD, while severe dysfunction is rare.
- A correlation may exist between MD severity and granulocyte dysfunction.
- Granulocyte function testing is recommended for MD patients with infections.