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Gower's muscular dystrophy(WDM)

MedGen UID:
67441
Concept ID:
C0221054
Disease or Syndrome
Synonyms: MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, DISTAL, SWEDISH; WDM; Welander distal myopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Gower's muscular dystrophy (58795000)
 
Gene: TIA1
OMIM: 160500; 604454

Definition

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. 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

High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Steppage gait
MedGen UID:
505526
Concept ID:
CN003047
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.
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Amyotrophy of ankle musculature
MedGen UID:
446974
Concept ID:
CN007940
Finding
Atrophy of the muscles of the ankle.
Toe extensor amyotrophy
MedGen UID:
489507
Concept ID:
CN167643
Finding
Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.
Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
EMG: neuropathic changes
MedGen UID:
500953
Concept ID:
CN003105
Finding
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Distal amyotrophy
MedGen UID:
505575
Concept ID:
CN003339
Finding
Muscular atrophy affecting muscles in the distal portions of the extremities.
Proximal muscle weakness
MedGen UID:
505578
Concept ID:
CN003345
Finding
A lack of strength of the proximal muscles.
Amyotrophy of ankle musculature
MedGen UID:
446974
Concept ID:
CN007940
Finding
Atrophy of the muscles of the ankle.
Toe extensor amyotrophy
MedGen UID:
489507
Concept ID:
CN167643
Finding
Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.

Recent clinical studies

Etiology

Pénisson-Besnier I
Rev Neurol (Paris) 2013 Aug-Sep;169(8-9):534-45. Epub 2013 Sep 3 doi: 10.1016/j.neurol.2012.09.021. [Epub ahead of print] PMID: 24008050
Kraya T, Zierz S
J Neural Transm 2013 Sep;120 Suppl 1:S3-7. Epub 2013 Jul 11 doi: 10.1007/s00702-013-1058-1. [Epub ahead of print] PMID: 23842731
Mori-Yoshimura M, Oya Y, Hayashi YK, Noguchi S, Nishino I, Murata M
Neuromuscul Disord 2013 Jan;23(1):84-8. Epub 2012 Nov 2 doi: 10.1016/j.nmd.2012.09.007. [Epub ahead of print] PMID: 23127962
Udd B
Neuromuscul Disord 2012 Jan;22(1):5-12. Epub 2011 Dec 23 doi: 10.1016/j.nmd.2011.10.003. [Epub ahead of print] PMID: 22197426
Malicdan MC, Nonaka I
Neurol India 2008 Jul-Sep;56(3):314-24. PMID: 18974558

Diagnosis

Pénisson-Besnier I
Rev Neurol (Paris) 2013 Aug-Sep;169(8-9):534-45. Epub 2013 Sep 3 doi: 10.1016/j.neurol.2012.09.021. [Epub ahead of print] PMID: 24008050
Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M
Eur J Neurol 2013 Jun;20(6):968-74. Epub 2013 Mar 26 doi: 10.1111/ene.12129. [Epub ahead of print] PMID: 23530687
Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F
Eur J Hum Genet 2013 Nov;21(11):1249-52. Epub 2013 Feb 27 doi: 10.1038/ejhg.2013.31. [Epub ahead of print] PMID: 23443021Free PMC Article
Udd B
Neuromuscul Disord 2012 Jan;22(1):5-12. Epub 2011 Dec 23 doi: 10.1016/j.nmd.2011.10.003. [Epub ahead of print] PMID: 22197426
Udd B
Neuromuscul Disord 2009 Jun;19(6):429-38. Epub 2009 May 27 doi: 10.1016/j.nmd.2009.04.002. [Epub ahead of print] PMID: 19477645

Therapy

Li M, Cai Y, Zhong M, Zou L, Gong C
Neuroreport 2013 Nov 13;24(16):924-7. doi: 10.1097/WNR.0000000000000028. PMID: 24045777
Rider LG, Shah M, Mamyrova G, Huber AM, Rice MM, Targoff IN, Miller FW; Childhood Myositis Heterogeneity Collaborative Study Group
Medicine (Baltimore) 2013 Jul;92(4):223-43. doi: 10.1097/MD.0b013e31829d08f9. PMID: 23877355Free PMC Article
Brady S, Squier W, Hilton-Jones D
J Neurol Neurosurg Psychiatry 2013 Nov;84(11):1240-6. Epub 2013 Jul 16 doi: 10.1136/jnnp-2013-305690. [Epub ahead of print] PMID: 23864699
Rider LG, Koziol D, Giannini EH, Jain MS, Smith MR, Whitney-Mahoney K, Feldman BM, Wright SJ, Lindsley CB, Pachman LM, Villalba ML, Lovell DJ, Bowyer SL, Plotz PH, Miller FW, Hicks JE
Arthritis Care Res (Hoboken) 2010 Apr;62(4):465-72. doi: 10.1002/acr.20035. PMID: 20391500Free PMC Article
Merlini L, Bernardi P
Neurotherapeutics 2008 Oct;5(4):613-8. doi: 10.1016/j.nurt.2008.08.004. PMID: 19019314

Prognosis

Zhu JF, Liu HH, Zhou T, Tian L
Int J Mol Med 2013 Nov;32(5):1166-70. Epub 2013 Sep 18 doi: 10.3892/ijmm.2013.1498. [Epub ahead of print] PMID: 24065205
Brady S, Squier W, Hilton-Jones D
J Neurol Neurosurg Psychiatry 2013 Nov;84(11):1240-6. Epub 2013 Jul 16 doi: 10.1136/jnnp-2013-305690. [Epub ahead of print] PMID: 23864699
Kraya T, Zierz S
J Neural Transm 2013 Sep;120 Suppl 1:S3-7. Epub 2013 Jul 11 doi: 10.1007/s00702-013-1058-1. [Epub ahead of print] PMID: 23842731
Linssen WH, de Voogt WG, Krahn M, Bernard R, Levy N, Wokke JH, Ginjaar HB, de Visser M
Eur J Neurol 2013 Jun;20(6):968-74. Epub 2013 Mar 26 doi: 10.1111/ene.12129. [Epub ahead of print] PMID: 23530687
Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R
Neuromuscul Disord 2010 Dec;20(12):791-5. Epub 2010 Aug 7 doi: 10.1016/j.nmd.2010.07.270. [Epub ahead of print] PMID: 20692837

Clinical prediction guides

Zhu JF, Liu HH, Zhou T, Tian L
Int J Mol Med 2013 Nov;32(5):1166-70. Epub 2013 Sep 18 doi: 10.3892/ijmm.2013.1498. [Epub ahead of print] PMID: 24065205
Li M, Cai Y, Zhong M, Zou L, Gong C
Neuroreport 2013 Nov 13;24(16):924-7. doi: 10.1097/WNR.0000000000000028. PMID: 24045777
Kraya T, Zierz S
J Neural Transm 2013 Sep;120 Suppl 1:S3-7. Epub 2013 Jul 11 doi: 10.1007/s00702-013-1058-1. [Epub ahead of print] PMID: 23842731
Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO
Neuromuscul Disord 2013 Jul;23(7):580-6. Epub 2013 May 24 doi: 10.1016/j.nmd.2013.04.003. [Epub ahead of print] PMID: 23707328
Pitceathly RD, Tomlinson SE, Hargreaves I, Bhardwaj N, Holton JL, Morrow JM, Evans J, Smith C, Fratter C, Woodward CE, Sweeney MG, Rahman S, Hanna MG
J Neurol Neurosurg Psychiatry 2013 Jan;84(1):107-10. Epub 2012 Aug 29 doi: 10.1136/jnnp-2012-303232. [Epub ahead of print] PMID: 22933815

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