Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

L. Maggi, M. Scoto, S. Cirak, S. A. Robb, A. Klein, S. Lillis, T. Cullup, L. Feng, A. Y. Manzur, C. A. Sewry, S. Abbs, H. Jungbluth, F. Muntoni

Research output: Contribution to journalArticle

Abstract

The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59%), ACTA1 in 7 (16%), SEPN1 in 7 (16%), MTM1 in 2 (5%), NEB in 1 (2%) and TPM3 in 1 (2%). Clinically, 77% of patients older than 18 months could walk independently. 35% of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86%) patients, whilst 4 (6%) got worse and 5 (8%) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases.

Original languageEnglish
Pages (from-to)195-205
Number of pages11
JournalNeuromuscular Disorders
Volume23
Issue number3
Publication statusPublished - Mar 2013

Fingerprint

Myotonia Congenita
Congenital Structural Myopathies
Central Core Myopathy
Nemaline Myopathies
Enteral Nutrition
Muscular Diseases
United Kingdom
Biopsy
Muscles
Mutation

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. / Maggi, L.; Scoto, M.; Cirak, S.; Robb, S. A.; Klein, A.; Lillis, S.; Cullup, T.; Feng, L.; Manzur, A. Y.; Sewry, C. A.; Abbs, S.; Jungbluth, H.; Muntoni, F.

In: Neuromuscular Disorders, Vol. 23, No. 3, 03.2013, p. 195-205.

Research output: Contribution to journalArticle

Maggi, L, Scoto, M, Cirak, S, Robb, SA, Klein, A, Lillis, S, Cullup, T, Feng, L, Manzur, AY, Sewry, CA, Abbs, S, Jungbluth, H & Muntoni, F 2013, 'Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.', Neuromuscular Disorders, vol. 23, no. 3, pp. 195-205.
Maggi, L. ; Scoto, M. ; Cirak, S. ; Robb, S. A. ; Klein, A. ; Lillis, S. ; Cullup, T. ; Feng, L. ; Manzur, A. Y. ; Sewry, C. A. ; Abbs, S. ; Jungbluth, H. ; Muntoni, F. / Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. In: Neuromuscular Disorders. 2013 ; Vol. 23, No. 3. pp. 195-205.
@article{3730b63842154a8988d434d627e16cf5,
title = "Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.",
abstract = "The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54{\%}) had a core myopathy (central core disease, multi-minicore disease), 9 (17{\%}) had nemaline myopathy, 7 (13{\%}) had myotubular/centronuclear myopathy, 2 (4{\%}) had congenital fibre type disproportion, 6 (11{\%}) had isolated type 1 predominance and 1 (2{\%}) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59{\%}), ACTA1 in 7 (16{\%}), SEPN1 in 7 (16{\%}), MTM1 in 2 (5{\%}), NEB in 1 (2{\%}) and TPM3 in 1 (2{\%}). Clinically, 77{\%} of patients older than 18 months could walk independently. 35{\%} of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86{\%}) patients, whilst 4 (6{\%}) got worse and 5 (8{\%}) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases.",
author = "L. Maggi and M. Scoto and S. Cirak and Robb, {S. A.} and A. Klein and S. Lillis and T. Cullup and L. Feng and Manzur, {A. Y.} and Sewry, {C. A.} and S. Abbs and H. Jungbluth and F. Muntoni",
year = "2013",
month = "3",
language = "English",
volume = "23",
pages = "195--205",
journal = "Neuromuscular Disorders",
issn = "0960-8966",
publisher = "Elsevier Ltd",
number = "3",

}

TY - JOUR

T1 - Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

AU - Maggi, L.

AU - Scoto, M.

AU - Cirak, S.

AU - Robb, S. A.

AU - Klein, A.

AU - Lillis, S.

AU - Cullup, T.

AU - Feng, L.

AU - Manzur, A. Y.

AU - Sewry, C. A.

AU - Abbs, S.

AU - Jungbluth, H.

AU - Muntoni, F.

PY - 2013/3

Y1 - 2013/3

N2 - The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59%), ACTA1 in 7 (16%), SEPN1 in 7 (16%), MTM1 in 2 (5%), NEB in 1 (2%) and TPM3 in 1 (2%). Clinically, 77% of patients older than 18 months could walk independently. 35% of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86%) patients, whilst 4 (6%) got worse and 5 (8%) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases.

AB - The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a single centre over a 5 year period. Of the 54 patients where muscle biopsy was available, 29 (54%) had a core myopathy (central core disease, multi-minicore disease), 9 (17%) had nemaline myopathy, 7 (13%) had myotubular/centronuclear myopathy, 2 (4%) had congenital fibre type disproportion, 6 (11%) had isolated type 1 predominance and 1 (2%) had a mixed core-rod myopathy. Of the 44 patients with a genetic diagnosis, RYR1 was mutated in 26 (59%), ACTA1 in 7 (16%), SEPN1 in 7 (16%), MTM1 in 2 (5%), NEB in 1 (2%) and TPM3 in 1 (2%). Clinically, 77% of patients older than 18 months could walk independently. 35% of all patients required ventilatory support and/or enteral feeding. Clinical course was stable or improved in 57/66 (86%) patients, whilst 4 (6%) got worse and 5 (8%) died. These findings indicate that core myopathies are the most common form of congenital myopathies and that more than half can be attributed to RYR1 mutations. The underlying genetic defect remains to be identified in 1/3 of congenital myopathies cases.

UR - http://www.scopus.com/inward/record.url?scp=84881500822&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84881500822&partnerID=8YFLogxK

M3 - Article

C2 - 23394784

VL - 23

SP - 195

EP - 205

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 3

ER -