Distal myopathy, Welander type

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, DISTAL, SWEDISH
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT
WDM
Distal myopathy, Swedish type
Number of Symptoms 15
OrphanetNr: 603
OMIM Id: 604454
ICD-10: G71.0
UMLs: C2931290
MeSH: C536690
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant distal myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002355) Difficulty walking 61 / 7739
2
(HPO:0003376) Steppage gait 41 / 7739
3
(HPO:0001288) Gait disturbance 318 / 7739
4
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
5
(HPO:0003805) Rimmed vacuoles 22 / 7739
6
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
7
(HPO:0002460) Distal muscle weakness 122 / 7739
8
(HPO:0003693) Distal amyotrophy 118 / 7739
9
(OMIM) Myopathic changes seen muscle biopsy 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Weakness of all intrinsic hand muscles (later) 1 / 7739
12
(OMIM) Weakness of the extensor muscles of the hands (initially) 1 / 7739
13
(OMIM) Weakness of the anterior tibial muscle and toe extensors 1 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Welander distal myopathy is 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. ...
Clinical Description OMIM On the basis of 78 probands and 171 secondary cases, Welander (1951) delineated this form of distal myopathy as a distinct entity with dominant inheritance. The 249 affected persons were distributed in 72 kindreds. The mean age at ...
Molecular genetics OMIM By targeted high-throughput sequencing and Sanger sequencing of the candidate WDM region, Hackman et al. (2013) identified a heterozygous mutation in the TIA1 gene (E384K; 603518.0001) that segregated with the disorder in all 57 Swedish and Finnish patients ...
Population genetics OMIM Welander distal myopathy is found predominantly in Sweden and Finland, with some patients reported in Great Britain. Klar et al. (2013) estimated that the TIA1 mutation arose 1,050 years earlier, coinciding with the epoch of early seafaring across ...