Welander distal myopathy (WDM) is a muscle dystrophy characterized by adult- onset distal muscle weakness, prevalently impacting the distal long extensors of

Welander distal myopathy (WDM) is an autosomal dominant myopathy with late‐adult onset characterized by slow progression of distal muscle weakness. The disorder is considered a model disease for hereditary distal myopathies and is almost only seen in Sweden and some parts of Finland.

Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-bi … An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Welander distal myopathy is an autosomal dominant disorder with late onset that affects extensor muscles of the hands and the feet. The disorder is considered as the most prevalent of the distal myopathies and is almost only seen in Sweden and in some parts of Finland.

The most-affected muscles are the long extensors of the hands and feet. CK-values are normal or slightly elevated. 2019-12-01 · Distal myopathy, Welander type (WDM) prevalence is unknown. The condition is mainly restricted to a geographical area around the Baltic Sea especially in Finland and Sweden (mid-eastern region), where the estimated prevalence is 1/10,000.

Distal myopathies comprise a rare and heterogeneous group of disorders that present with Miyoshi's myopathy is a primary disorder of skeletal muscle usually

Welander distal myopathy: The evasive gene. Neuromuscular Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Annals of Neurology, 73(4), 500-509. https://doi.org/10.1002/ana.23831.

An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.

Distal myopathy, Welander type (WDM) prevalence is unknown. The condition is mainly restricted to a geographical area around the Baltic Sea especially in Finland and Sweden (mid-eastern region), where the estimated prevalence is 1/10,000.

They are Welander’s distal myopathy, Finnish (tibial) distal myopathy, Miyoshi distal myopathy, Nonaka distal myopathy, Gowers–Laing distal myopathy, Hereditary inclusion-body myositis type 1, Distal myopathy with vocal cord and pharyngeal weakness, and ZASP-related myopathy. All of these affect different regions of the extremities and can show up as early as 5 years of age to as late as 50 years old.
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Onset is usually after 35 years of age and progression is slow. Hereditary IBM with Early Respiratory Failure. Distal myopathy with Early Respiratory Failure. Myofibrillar myopathy with Early Respiratory Failure.
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Lisa Welander var professor i neurologi vid Umeå universitet under åren 1964 – 1975. Hon var behandlade en ny ärftlig muskulär sjukdom (distal myopathy).

Distal Muscular Dystrophy (DD). Duchenne Finnish (Tibial) Distal Myopathy. Forbes Disease Kugelberg-Welander Disease (Spinal Muscular Atrophy)

This form of distal muscular dystrophy usually has an onset between 40 and 50 years of age. Upper extremities tend to be affected first, then lower ones. The degree of muscle weakness involved can range from mild to severe. The cause remains unknown.

Dort wurde sie von der Neurologin Lisa Welander als eigenes Krankheitsbild erkannt. Es ist eine distale Myopathie mit spätem Beginn (nach dem 40. Lebensjahr) und wird autosomal-dominant vererbt. Welander became a professor of neurology at Umeå University from 1964–75.