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Neuromuscular disease, congenital, with uniform type 1 fiber

MedGen UID:
436123
•Concept ID:
C2674259
•
Disease or Syndrome
Synonyms: CNMDU1; Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Professional guidelines

PubMed

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
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. PMID: 24725366Free PMC Article

Recent clinical studies

Etiology

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke M
Hum Genet 2017 Jul;136(7):903-910. Epub 2017 May 24 doi: 10.1007/s00439-017-1814-7. PMID: 28540413
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
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. PMID: 24725366Free PMC Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F
Hum Mutat 2012 Jun;33(6):981-8. Epub 2012 Apr 4 doi: 10.1002/humu.22056. PMID: 22473935
Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers.
Imagama S, Kawakami N, Tsuji T, Ohara T, Ishiguro N
Eur Spine J 2012 Jun;21 Suppl 4(Suppl 4):S499-504. Epub 2011 Dec 23 doi: 10.1007/s00586-011-2128-4. PMID: 22193842Free PMC Article
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I
Neurology 2008 Jan 8;70(2):114-22. Epub 2007 May 30 doi: 10.1212/01.wnl.0000269792.63927.86. PMID: 17538032

Diagnosis

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG
Neurotherapeutics 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1. PMID: 30406384Free PMC Article
Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber.
Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I
Brain Dev 2015 Apr;37(4):459-62. Epub 2014 Aug 8 doi: 10.1016/j.braindev.2014.07.009. PMID: 25112543
Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M
Anesth Analg 2011 Dec;113(6):1461-7. Epub 2011 Sep 16 doi: 10.1213/ANE.0b013e318232053e. PMID: 21926372
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I
Neurology 2008 Jan 8;70(2):114-22. Epub 2007 May 30 doi: 10.1212/01.wnl.0000269792.63927.86. PMID: 17538032
Multi-minicore disease revisited.
Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J
Arq Neuropsiquiatr 2004 Dec;62(4):935-9. Epub 2004 Dec 15 doi: 10.1590/s0004-282x2004000600002. PMID: 15608948

Prognosis

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M
Ann Clin Transl Neurol 2020 May;7(5):846-854. Epub 2020 Apr 19 doi: 10.1002/acn3.51031. PMID: 32307885Free PMC Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
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. PMID: 24725366Free PMC Article
Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M
Anesth Analg 2011 Dec;113(6):1461-7. Epub 2011 Sep 16 doi: 10.1213/ANE.0b013e318232053e. PMID: 21926372
Multi-minicore disease revisited.
Nucci A, Queiroz LS, Zambelli HJ, Martins Filho J
Arq Neuropsiquiatr 2004 Dec;62(4):935-9. Epub 2004 Dec 15 doi: 10.1590/s0004-282x2004000600002. PMID: 15608948
Congenital myopathy with uniform type 1 fiber predominance and type 2 fiber hypoplasia: report of one case.
Huang ML, Tsai CH, Lee CC
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1998 Jan-Feb;39(1):62-4. PMID: 9553297

Clinical prediction guides

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M
Ann Clin Transl Neurol 2020 May;7(5):846-854. Epub 2020 Apr 19 doi: 10.1002/acn3.51031. PMID: 32307885Free PMC Article
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
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. PMID: 24725366Free PMC Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F
Hum Mutat 2012 Jun;33(6):981-8. Epub 2012 Apr 4 doi: 10.1002/humu.22056. PMID: 22473935
Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M
Anesth Analg 2011 Dec;113(6):1461-7. Epub 2011 Sep 16 doi: 10.1213/ANE.0b013e318232053e. PMID: 21926372
Congenital myopathy with uniform type 1 fiber predominance and type 2 fiber hypoplasia: report of one case.
Huang ML, Tsai CH, Lee CC
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1998 Jan-Feb;39(1):62-4. PMID: 9553297

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