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Centronuclear myopathy(CNM)

MedGen UID:
104495
Concept ID:
C0175709
Disease or Syndrome
Synonyms: Centronuclear myopathy, congenital; CNM; Myotubular myopathy
SNOMED CT: Myotubular myopathy (82077006); Centronuclear myopathy (82077006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: MTMR14, MTM1, DNM2, BIN1
 
Monarch Initiative: MONDO:0018947
OMIM® Phenotypic series: PS160150
Orphanet: ORPHA595

Definition

Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.

People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time.

A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.

Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Gómez-Oca R, Cowling BS, Laporte J
Int J Mol Sci 2021 Oct 21;22(21) doi: 10.3390/ijms222111377. PMID: 34768808Free PMC Article
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Recent clinical studies

Etiology

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Jungbluth H, Muntoni F
Semin Pediatr Neurol 2019 Apr;29:71-82. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.004. PMID: 31060727
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB
Acta Neuropathol Commun 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313Free PMC Article
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH
Neurology 2013 Oct 1;81(14):1205-14. Epub 2013 Aug 23 doi: 10.1212/WNL.0b013e3182a6ca62. PMID: 23975875Free PMC Article
D'Amico A, Bertini E
Curr Neurol Neurosci Rep 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. PMID: 18367042

Diagnosis

Beecher G, Fleming MD, Liewluck T
Muscle Nerve 2022 Apr;65(4):374-390. Epub 2022 Jan 5 doi: 10.1002/mus.27474. PMID: 34985130
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Lawal TA, Todd JJ, Meilleur KG
Neurotherapeutics 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1. PMID: 30406384Free PMC Article
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH
Neurology 2013 Oct 1;81(14):1205-14. Epub 2013 Aug 23 doi: 10.1212/WNL.0b013e3182a6ca62. PMID: 23975875Free PMC Article
D'Amico A, Bertini E
Curr Neurol Neurosci Rep 2008 Jan;8(1):73-9. doi: 10.1007/s11910-008-0012-3. PMID: 18367042

Therapy

Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J
Brain 2023 Oct 3;146(10):4158-4173. doi: 10.1093/brain/awad251. PMID: 37490306Free PMC Article
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC
Clin Genet 2021 Dec;100(6):692-702. Epub 2021 Sep 25 doi: 10.1111/cge.14054. PMID: 34463354Free PMC Article
Jungbluth H, Muntoni F
Semin Pediatr Neurol 2019 Apr;29:71-82. Epub 2019 Jan 16 doi: 10.1016/j.spen.2019.01.004. PMID: 31060727
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F
Nat Rev Neurol 2018 Mar;14(3):151-167. Epub 2018 Feb 2 doi: 10.1038/nrneurol.2017.191. PMID: 29391587
Jungbluth H, Ochala J, Treves S, Gautel M
Semin Cell Dev Biol 2017 Apr;64:191-200. Epub 2016 Aug 8 doi: 10.1016/j.semcdb.2016.08.004. PMID: 27515125

Prognosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Reumers SFI, Erasmus CE, Bouman K, Pennings M, Schouten M, Kusters B, Duijkers FAM, van der Kooi A, Jaeger B, Verschuuren-Bemelmans CC, Faber CG, van Engelen BG, Kamsteeg EJ, Jungbluth H, Voermans NC
Clin Genet 2021 Dec;100(6):692-702. Epub 2021 Sep 25 doi: 10.1111/cge.14054. PMID: 34463354Free PMC Article
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F
Nat Rev Neurol 2018 Mar;14(3):151-167. Epub 2018 Feb 2 doi: 10.1038/nrneurol.2017.191. PMID: 29391587
Prokic I, Cowling BS, Laporte J
J Mol Med (Berl) 2014 May;92(5):453-63. Epub 2014 Mar 5 doi: 10.1007/s00109-014-1138-1. PMID: 24590001
Jungbluth H, Wallgren-Pettersson C, Laporte J
Orphanet J Rare Dis 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. PMID: 18817572Free PMC Article

Clinical prediction guides

Margeta M
Annu Rev Pathol 2020 Jan 24;15:261-285. Epub 2019 Oct 8 doi: 10.1146/annurev-pathmechdis-012419-032618. PMID: 31594457
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB
Acta Neuropathol Commun 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313Free PMC Article
Chen T, Pu C, Wang Q, Liu J, Mao Y, Shi Q
Neurol Sci 2015 May;36(5):735-41. Epub 2014 Dec 12 doi: 10.1007/s10072-014-2028-6. PMID: 25501959
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB
Neurology 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. PMID: 15136669
Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS
Am J Perinatol 2003 May;20(4):173-9. doi: 10.1055/s-2003-40603. PMID: 12874727

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