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Limb-Girdle Muscular Dystrophies, Autosomal Dominant

MedGen UID:
432734
Concept ID:
CN043626
Disease or Syndrome
Synonyms: Limb-Girdle Muscular Dystrophy, Autosomal Dominant
 
Related genes: MYLK2, DNAJB6, HNRNPDL, MYOT, MYH7, MYH6, LMNA, DES, CAV3

Definition

Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder. [from GTR]

Additional description

From GHR
Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild.In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance.Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy.Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. In some cases, the breathing problems are severe enough that affected individuals need to use a machine to help them breathe (mechanical ventilation).Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.  https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy

Term Hierarchy

Recent clinical studies

Etiology

Nigro V, Savarese M
Acta Myol 2014 May;33(1):1-12. PMID: 24843229Free PMC Article
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M
Hum Mol Genet 2014 Aug 1;23(15):4103-10. Epub 2014 Mar 18 doi: 10.1093/hmg/ddu127. PMID: 24647604
Rosales XQ, al-Dahhak R, Tsao CY
Pediatr Neurol 2012 Jan;46(1):13-23. doi: 10.1016/j.pediatrneurol.2011.08.014. PMID: 22196486
Danièle N, Richard I, Bartoli M
Int J Biochem Cell Biol 2007;39(9):1608-24. Epub 2007 Feb 12 doi: 10.1016/j.biocel.2007.02.005. PMID: 17339125
Straub V, Bushby K
Semin Pediatr Neurol 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006. PMID: 17027860

Diagnosis

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M
Brain 2016 Aug;139(Pt 8):2154-63. Epub 2016 Jun 3 doi: 10.1093/brain/aww133. PMID: 27259757
Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V
Eur J Hum Genet 2016 Jan;24(1):73-7. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.76. PMID: 25898921Free PMC Article
Rosales XQ, al-Dahhak R, Tsao CY
Pediatr Neurol 2012 Jan;46(1):13-23. doi: 10.1016/j.pediatrneurol.2011.08.014. PMID: 22196486
Straub V, Bushby K
Semin Pediatr Neurol 2006 Jun;13(2):104-14. doi: 10.1016/j.spen.2006.06.006. PMID: 17027860
Angelini C
Acta Myol 2004 Dec;23(3):130-6. PMID: 15938568

Therapy

Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y
Science 2014 Sep 19;345(6203):1505-8. doi: 10.1126/science.1250744. PMID: 25237101

Prognosis

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R
Brain 2013 May;136(Pt 5):1508-17. Epub 2013 Mar 29 doi: 10.1093/brain/awt074. PMID: 23543484Free PMC Article
Rosales XQ, Moser SJ, Tran T, McCarthy B, Dunn N, Habib P, Simonetti OP, Mendell JR, Raman SV
J Cardiovasc Magn Reson 2011 Aug 4;13:39. doi: 10.1186/1532-429X-13-39. PMID: 21816046Free PMC Article
Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J
J Neurol Sci 2010 Apr 15;291(1-2):79-85. Epub 2010 Feb 8 doi: 10.1016/j.jns.2009.12.008. PMID: 20116073
Angelini C
Acta Myol 2004 Dec;23(3):130-6. PMID: 15938568
Zatz M, de Paula F, Starling A, Vainzof M
Neuromuscul Disord 2003 Sep;13(7-8):532-44. PMID: 12921790

Clinical prediction guides

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M
Brain 2016 Aug;139(Pt 8):2154-63. Epub 2016 Jun 3 doi: 10.1093/brain/aww133. PMID: 27259757
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R
Brain 2013 May;136(Pt 5):1508-17. Epub 2013 Mar 29 doi: 10.1093/brain/awt074. PMID: 23543484Free PMC Article
Rosales XQ, Moser SJ, Tran T, McCarthy B, Dunn N, Habib P, Simonetti OP, Mendell JR, Raman SV
J Cardiovasc Magn Reson 2011 Aug 4;13:39. doi: 10.1186/1532-429X-13-39. PMID: 21816046Free PMC Article
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V
Eur J Hum Genet 2010 Jun;18(6):636-41. Epub 2010 Jan 13 doi: 10.1038/ejhg.2009.235. PMID: 20068593Free PMC Article
Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I
Neuromuscul Disord 2009 Jan;19(1):29-36. Epub 2008 Dec 12 doi: 10.1016/j.nmd.2008.09.018. PMID: 19070492

Recent systematic reviews

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V
Eur J Hum Genet 2016 Jan;24(1):73-7. Epub 2015 Apr 22 doi: 10.1038/ejhg.2015.76. PMID: 25898921Free PMC Article

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