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Distal myopathy Welander type (disorder)

http://snomed.info/id/726107008

A distal myopathy with characteristics of weakness in the distal upper extremities usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremities primarily in toe and ankle extensors. This disease is mainly restricted to a geographical area around the Baltic Sea and is a late adult-onset disorder. Caused by a missense change (c.1362G>A; p.E384K) in TIA1 gene (2p13) which encodes nucleolysin TIA-1 isoform p40, a key component of stress granules. Inherited as an autosomal dominant trait.

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Term info

Label

Distal myopathy Welander type (disorder)

Synonyms

Distal myopathy Swedish type
Distal myopathy Welander type

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Term relations

Subclass of:

Autosomal dominant hereditary disorder (disorder)
Distal muscular dystrophy (disorder)
Distal muscular dystrophy (disorder) and Autosomal dominant hereditary disorder (disorder) and Role group (attribute) some (
    Associated morphology (attribute) some Dystrophy (morphologic abnormality) and
    Occurrence (attribute) some Adulthood (qualifier value) and
    Finding site (attribute) some Skeletal muscle structure (body structure))