Welander distal myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Welander distal myopathy. This is caused by mutations in the TIA1 gene on chromosome 2p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TIA1 gene on chromosome 2p
- The transmission is autosomal dominant
- It usually affects Scandinavians
- The onset is > 40 years
Clinical features
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Muscle biopsy
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Other investigations
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References
- Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
- Malicdan MCV, Nonaka I. Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles. Neurol India 2008; 56:314-324.
- Borg K, Ahlberg G, Anvret M, Edström L. Welander distal myopathy-an overview. Neuromuscul Disord 1998; 8:115-118.
- Hackman P, Sarparanta J, Lehtinen S, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol 2013; 73:500-509.
- Dimachkie MM, Barohn RJ. Distal myopathies. Neurol Clin 2014; 32:817-842.
