Welander distal myopathy
Definition:
Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. WDM is caused by mutations in TIA1 gene which encodes a key component of stress granules.
References:
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[1]. G Ahlberg, et al. Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies. Neuromuscul Disord. 1998 Apr;8(2):111-4. [Content Brief]
[2]. Peter Hackman, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol. 2013 Apr;73(4):500-9. [Content Brief]
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