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Welander distal myopathy(WDM)

MedGen UID:
67441
•Concept ID:
C0221054
•
Disease or Syndrome
Synonyms: Distal myopathy, Swedish type; Gower's muscular dystrophy; MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT; WDM; Welander distal myopathy, Swedish type
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TIA1 (2p13.3)
 
Monarch Initiative: MONDO:0011466
OMIM®: 604454
Orphanet: ORPHA603

Definition

Welander distal myopathy (WDM) 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. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. This disorder is common in Sweden and Finland (summary by Hackman et al., 2013). [from OMIM]

Clinical features

From HPO
Steppage gait
MedGen UID:
98105
•Concept ID:
C0427149
•
Finding
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
See: Feature record | Search on this feature
Distal muscle weakness
MedGen UID:
140883
•Concept ID:
C0427065
•
Finding
Reduced strength of the musculature of the distal extremities.
See: Feature record | Search on this feature
Distal amyotrophy
MedGen UID:
338530
•Concept ID:
C1848736
•
Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
See: Feature record | Search on this feature
Rimmed vacuoles
MedGen UID:
340089
•Concept ID:
C1853932
•
Finding
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
See: Feature record | Search on this feature
Mildly elevated creatine kinase
MedGen UID:
342469
•Concept ID:
C1850309
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWelander distal myopathy
Follow this link to review classifications for Welander distal myopathy in Orphanet.

Professional guidelines

PubMed

Welander distal myopathy outside the Swedish population: phenotype and genotype.
von Tell D, Somer H, Udd B, Edström L, Borg K, Ahlberg G
Neuromuscul Disord 2002 Aug;12(6):544-7. doi: 10.1016/s0960-8966(01)00338-8. PMID: 12117477

Recent clinical studies

Etiology

Diverse Phenotypic Presentation of the Welander Distal Myopathy Founder Mutation, With Myopathy and Amyotrophic Lateral Sclerosis in the Same Family.
Purcell N, Manousakis G
J Clin Neuromuscul Dis 2024 Sep 1;26(1):42-46. doi: 10.1097/CND.0000000000000501. PMID: 39163160
Distal muscular dystrophies.
Udd B
Handb Clin Neurol 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5. PMID: 21496636
Distribution of muscle degeneration in Welander distal myopathy--a magnetic resonance imaging and muscle biopsy study.
Ahlberg G, Jakobsson F, Fransson A, Moritz A, Borg K, Edström L
Neuromuscul Disord 1994 Jan;4(1):55-62. doi: 10.1016/0960-8966(94)90048-5. PMID: 8173352
Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison.
Lindberg C, Borg K, Edström L, Hedström A, Oldfors A
J Neurol Sci 1991 May;103(1):76-81. doi: 10.1016/0022-510x(91)90287-h. PMID: 1650819
Autonomic cardiovascular responses in distal myopathy (Welander).
Borg K, Sachs C, Kaijser L
Acta Neurol Scand 1987 Oct;76(4):261-6. doi: 10.1111/j.1600-0404.1987.tb03578.x. PMID: 3687377

Diagnosis

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient.
Gass J, Blackburn P, Jackson J, Harris K, Selcen D, Dimberg E, Atwal P
J Clin Neuromuscul Dis 2017 Mar;18(3):152-156. doi: 10.1097/CND.0000000000000164. PMID: 28221306Free PMC Article
Distal muscular dystrophies.
Udd B
Handb Clin Neurol 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5. PMID: 21496636
Welander distal myopathy--an overview.
Borg K, Ahlberg G, Anvret M, Edström L
Neuromuscul Disord 1998 Apr;8(2):115-8. doi: 10.1016/s0960-8966(98)00008-x. PMID: 9608565
Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison.
Lindberg C, Borg K, Edström L, Hedström A, Oldfors A
J Neurol Sci 1991 May;103(1):76-81. doi: 10.1016/0022-510x(91)90287-h. PMID: 1650819
Neurogenic involvement in distal myopathy (Welander). Histochemical and morphological observations on muscle and nerve biopsies.
Borg K, Solders G, Borg J, Edström L, Kristensson K
J Neurol Sci 1989 Jun;91(1-2):53-70. doi: 10.1016/0022-510x(89)90075-0. PMID: 2746292

Prognosis

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.
Fernández-Gómez A, Velasco BR, Izquierdo JM
Cells 2022 Mar 4;11(5) doi: 10.3390/cells11050884. PMID: 35269506Free PMC Article
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.
Brand P, Dyck PJ, Liu J, Berini S, Selcen D, Milone M
Neuromuscul Disord 2016 Aug;26(8):511-5. Epub 2016 May 24 doi: 10.1016/j.nmd.2016.05.012. PMID: 27282841
Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy.
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415
Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison.
Lindberg C, Borg K, Edström L, Hedström A, Oldfors A
J Neurol Sci 1991 May;103(1):76-81. doi: 10.1016/0022-510x(91)90287-h. PMID: 1650819

Clinical prediction guides

Dynamics of T-Cell Intracellular Antigen 1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy under Oxidative Stress.
Fernández-Gómez A, Velasco BR, Izquierdo JM
Cells 2022 Mar 4;11(5) doi: 10.3390/cells11050884. PMID: 35269506Free PMC Article
A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy.
Carrascoso I, Sánchez-Jiménez C, Silion E, Alcalde J, Izquierdo JM
Mol Cell Biol 2019 Jan 1;39(1) Epub 2018 Dec 11 doi: 10.1128/MCB.00299-18. PMID: 30348840Free PMC Article
Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.
Brand P, Dyck PJ, Liu J, Berini S, Selcen D, Milone M
Neuromuscul Disord 2016 Aug;26(8):511-5. Epub 2016 May 24 doi: 10.1016/j.nmd.2016.05.012. PMID: 27282841
Genetic linkage of Welander distal myopathy to chromosome 2p13.
Ahlberg G, von Tell D, Borg K, Edström L, Anvret M
Ann Neurol 1999 Sep;46(3):399-404. doi: 10.1002/1531-8249(199909)46:3<399::aid-ana16>3.0.co;2-q. PMID: 10482271
Neurogenic involvement in distal myopathy (Welander). Histochemical and morphological observations on muscle and nerve biopsies.
Borg K, Solders G, Borg J, Edström L, Kristensson K
J Neurol Sci 1989 Jun;91(1-2):53-70. doi: 10.1016/0022-510x(89)90075-0. PMID: 2746292

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    • ClinVar
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      Related information in GTR
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      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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