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Myopathy, distal, 1(MPD1)

MedGen UID:
449370
Concept ID:
CN074249
Disease or Syndrome
Synonyms: MPD1; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY
 
Gene: MYH7
Cytogenetic location: 14q11.2
OMIM: 160500

Disease characteristics

Excerpted from the GeneReview: Laing Distal Myopathy
Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in all affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness is observed. Life expectancy is normal.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Phillipa Lamont  |  William Wallefeld  |  Nigel G Laing   view full author information

Additional description

From GHR
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors. In addition to muscle weakness in the hands and feet, Laing distal myopathy causes weakness in several muscles of the neck and face. A decade or more after the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, and shoulders. Laing distal myopathy progresses very gradually, and most affected people remain mobile throughout life. Life expectancy is normal in people with this condition.  http://ghr.nlm.nih.gov/condition/laing-distal-myopathy

Professional guidelines

PubMed

Lamont P, Wallefeld W, Davis M, Udd B, Laing N
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.190. [Epub ahead of print] PMID: 21150886Free PMC Article

Recent clinical studies

Etiology

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2014 Aug;85(8):914-7. Epub 2013 Sep 11 doi: 10.1136/jnnp-2013-305587. [Epub ahead of print] PMID: 24027297
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
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

Udd B
Neuromuscul Disord 2014 Jan;24(1):74-6. Epub 2013 Oct 25 doi: 10.1016/j.nmd.2013.10.004. [Epub ahead of print] PMID: 24239231
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
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

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
Chen CC, Chiu PC, Shih CH, Hsieh KS
Acta Paediatr Taiwan 2005 Mar-Apr;46(2):91-3. PMID: 16302586

Prognosis

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2014 Aug;85(8):914-7. Epub 2013 Sep 11 doi: 10.1136/jnnp-2013-305587. [Epub ahead of print] PMID: 24027297
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

Cho A, Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I
J Neurol Neurosurg Psychiatry 2014 Aug;85(8):914-7. Epub 2013 Sep 11 doi: 10.1136/jnnp-2013-305587. [Epub ahead of print] PMID: 24027297
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
Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ
Neurology 2010 Aug 24;75(8):732-41. doi: 10.1212/WNL.0b013e3181eee4d5. PMID: 20733148

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