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Nemaline myopathy

MedGen UID:
61528
Concept ID:
C0206157
Disease or Syndrome
Synonyms: Myopathies, Nemaline; Rod myopathy
SNOMED CT: Nemaline myopathy (75072002); Nemaline body disease (75072002); Rod myopathy (75072002); Rod-body myopathy (75072002)
 
Orphanet: ORPHA607

Disease characteristics

Excerpted from the GeneReview: Nemaline Myopathy
Nemaline myopathy (referred to in this entry as NM) is characterized by weakness, hypotonia, and depressed or absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and the proximal limb muscles. The clinical classification defines six forms of NM, which are classified by onset and severity of motor and respiratory involvement: Severe congenital (neonatal) (16% of all individuals with NM). Amish NM. Intermediate congenital (20%). Typical congenital (46%). Childhood-onset (13%). Adult-onset (late-onset) (4%). Considerable overlap occurs among the forms. There are significant differences in survival between individuals classified as having severe, intermediate, and typical congenital NM. Severe neonatal respiratory disease and the presence of arthrogryposis multiplex congenita are associated with death in the first year of life. Independent ambulation before age 18 months is predictive of survival. Most children with typical congenital NM are eventually able to walk. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Kathryn N North  |  Monique M Ryan   view full author information

Additional description

From GHR
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.  http://ghr.nlm.nih.gov/condition/nemaline-myopathy

Recent clinical studies

Etiology

Gajda A, Horváth E, Hortobágyi T, Gergev G, Szabó H, Farkas K, Nagy N, Széll M, Sztriha L
J Child Neurol 2015 Apr;30(5):627-30. Epub 2013 Sep 20 doi: 10.1177/0883073813494476. [Epub ahead of print] PMID: 24056153
Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B
Neurology 2014 Dec 2;83(23):2133-9. Epub 2014 Nov 5 doi: 10.1212/WNL.0000000000001047. [Epub ahead of print] PMID: 25378674
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB
Acta Neuropathol Commun 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. [Epub ahead of print] PMID: 24725366Free PMC Article
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG
Am J Hum Genet 2013 Jul 11;93(1):6-18. Epub 2013 Jun 6 doi: 10.1016/j.ajhg.2013.05.004. [Epub ahead of print] PMID: 23746549Free PMC Article
Kiiski K, Laari L, Lehtokari VL, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K
Neuromuscul Disord 2013 Jan;23(1):56-65. Epub 2012 Sep 23 doi: 10.1016/j.nmd.2012.07.007. [Epub ahead of print] PMID: 23010307

Diagnosis

Marra JD, Engelstad KE, Ankala A, Tanji K, Dastgir J, De Vivo DC, Coffee B, Chiriboga CA
Muscle Nerve 2015 May;51(5):767-72. Epub 2015 Feb 17 doi: 10.1002/mus.24528. [Epub ahead of print] PMID: 25430424
Maeda MH, Ohta H, Izutsu K, Shimizu J, Uesaka Y
Muscle Nerve 2015 May;51(5):772-4. Epub 2015 Jan 16 doi: 10.1002/mus.24509. [Epub ahead of print] PMID: 25381859
Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, Gejman R, Diaz J, Santorelli FM, Romero NB, Bertini E, Bevilacqua JA
Muscle Nerve 2014 Dec;50(6):1011-6. Epub 2014 Oct 30 doi: 10.1002/mus.24353. [Epub ahead of print] PMID: 25088345
Romero NB, Sandaradura SA, Clarke NF
Curr Opin Neurol 2013 Oct;26(5):519-26. doi: 10.1097/WCO.0b013e328364d681. PMID: 23995272
Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, Yasui S
Pediatrics 2013 Jun;131(6):e1986-90. Epub 2013 May 6 doi: 10.1542/peds.2012-1139. [Epub ahead of print] PMID: 23650303

Therapy

Sarullo FM, Vitale G, Di Franco A, Sarullo S, Salerno Y, Vassallo L, Baviera EP, Marazia S, Mandalà G, Lanza GA
BMC Cardiovasc Disord 2015 Jan 19;15:5. doi: 10.1186/1471-2261-15-5. [Epub ahead of print] PMID: 25597856Free PMC Article
Gautam R, Vanga S, Madan A, Gayathri N, Nongthomba U, Umapathy S
Anal Chem 2015 Feb 17;87(4):2187-94. Epub 2015 Jan 27 doi: 10.1021/ac503647x. [Epub ahead of print] PMID: 25583313
Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B
Neurology 2014 Dec 2;83(23):2133-9. Epub 2014 Nov 5 doi: 10.1212/WNL.0000000000001047. [Epub ahead of print] PMID: 25378674
Olukman O, Calkavur S, Diniz G, Unalp A, Atlihan F
Neurol Neurochir Pol 2013 Sep-Oct;47(5):493-8. PMID: 24166571
de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H
J Med Genet 2013 Jun;50(6):383-92. Epub 2013 Apr 9 doi: 10.1136/jmedgenet-2012-101470. [Epub ahead of print] PMID: 23572184Free PMC Article

Prognosis

Sarullo FM, Vitale G, Di Franco A, Sarullo S, Salerno Y, Vassallo L, Baviera EP, Marazia S, Mandalà G, Lanza GA
BMC Cardiovasc Disord 2015 Jan 19;15:5. doi: 10.1186/1471-2261-15-5. [Epub ahead of print] PMID: 25597856Free PMC Article
Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B
Neurology 2014 Dec 2;83(23):2133-9. Epub 2014 Nov 5 doi: 10.1212/WNL.0000000000001047. [Epub ahead of print] PMID: 25378674
Yin X, Pu CQ, Wang Q, Liu JX, Mao YL
Mol Med Rep 2014 Jul;10(1):175-82. Epub 2014 Apr 24 doi: 10.3892/mmr.2014.2184. [Epub ahead of print] PMID: 24788569
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB
Acta Neuropathol Commun 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. [Epub ahead of print] PMID: 24725366Free PMC Article
Gatayama R, Ueno K, Nakamura H, Yanagi S, Ueda H, Yamagishi H, Yasui S
Pediatrics 2013 Jun;131(6):e1986-90. Epub 2013 May 6 doi: 10.1542/peds.2012-1139. [Epub ahead of print] PMID: 23650303

Clinical prediction guides

Garg A, O'Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN
J Clin Invest 2014 Aug;124(8):3529-39. Epub 2014 Jun 24 doi: 10.1172/JCI74994. [Epub ahead of print] PMID: 24960163Free PMC Article
Yin X, Pu CQ, Wang Q, Liu JX, Mao YL
Mol Med Rep 2014 Jul;10(1):175-82. Epub 2014 Apr 24 doi: 10.3892/mmr.2014.2184. [Epub ahead of print] PMID: 24788569
Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB
Acta Neuropathol Commun 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44. [Epub ahead of print] PMID: 24725366Free PMC Article
Ottenheijm CA, Buck D, de Winter JM, Ferrara C, Piroddi N, Tesi C, Jasper JR, Malik FI, Meng H, Stienen GJ, Beggs AH, Labeit S, Poggesi C, Lawlor MW, Granzier H
Brain 2013 Jun;136(Pt 6):1718-31. Epub 2013 May 28 doi: 10.1093/brain/awt113. [Epub ahead of print] PMID: 23715096Free PMC Article
de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H
J Med Genet 2013 Jun;50(6):383-92. Epub 2013 Apr 9 doi: 10.1136/jmedgenet-2012-101470. [Epub ahead of print] PMID: 23572184Free PMC Article

Recent systematic reviews

Feng JJ, Ushakov DS, Ferenczi MA, Laing NG, Nowak KJ, Marston SB
J Muscle Res Cell Motil 2009;30(1-2):85-92. Epub 2009 May 6 doi: 10.1007/s10974-009-9178-9. [Epub ahead of print] PMID: 19418233
Wallgren-Pettersson C, Laing NG
Neuromuscul Disord 2003 Aug;13(6):501-7. PMID: 12899878

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