Autosomal dominant hereditary disorder
Distal muscular dystrophy
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Distal myopathy Welander type (disorder)
Distal myopathy Welander type
Distal myopathy Swedish type
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.
distale myopathie Welander-type
spierdystrofie van Welander
Id726107008
StatusPrimitive
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceAdulthood
Clinical courseProgressive
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified