History and current difficulties in classifying inherited myopathies and muscular dystrophies.

Stéphane Mathis, Meriem Tazir, Laurent Magy, Fanny Duval, Gwendal Le Masson, Mathilde Duchesne, Philippe Couratier, Karima Ghorab, Guilhem Solé, Idoia Lacoste, Cyril Goizet, Jean-Michel Vallat
Journal of the Neurological Sciences. 2018-01-01; 384: 50-54
DOI: 10.1016/j.jns.2017.10.051

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1. J Neurol Sci. 2018 Jan 15;384:50-54. doi: 10.1016/j.jns.2017.10.051. Epub 2017
Nov 2.

History and current difficulties in classifying inherited myopathies and muscular
dystrophies.

Mathis S(1), Tazir M(2), Magy L(3), Duval F(1), Le Masson G(1), Duchesne M(4),
Couratier P(5), Ghorab K(5), Solé G(1), Lacoste I(6), Goizet C(7), Vallat JM(8).

Author information:
(1)Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital),
University of Bordeaux, place Amélie Raba-Léon, 33000 Bordeaux, France; National
reference center ‘maladies neuromusculaires du grand sud-ouest’, CHU Bordeaux
(Pellegrin Hospital), University of Bordeaux, place Amélie Raba-Léon, 33000
Bordeaux, France.
(2)Department of Neurology, University Hospital Mustapha Bacha, Algiers, Algeria;
Laboratoire de Neurosciences, University of Algiers 1, Algiers, Algeria.
(3)Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther
King, 87042 Limoges, France; National reference center ‘neuropathies
périphériques rares’, University Hospital Dupuytren, 2 avenue Martin Luther King,
87042 Limoges, France.
(4)Department of Pathology, University Hospital Dupuytren, 2 avenue Martin Luther
King, 87042 Limoges, France.
(5)Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther
King, 87042 Limoges, France.
(6)Department of Neurology, Nerve-Muscle Unit, CHU Bordeaux (Pellegrin Hospital),
University of Bordeaux, place Amélie Raba-Léon, 33000 Bordeaux, France.
(7)Department of Medical Genetics (National reference center ‘maladies
neuromusculaires du grand sud-ouest’), CHU Bordeaux (Pellegrin Hospital),
University of Bordeaux, place Amélie Raba-Léon, 33076 Bordeaux, France; MRGM
Laboratory, INSERM U1211, University of Bordeaux, place Amélie Raba-Léon, 33076
Bordeaux, France.
(8)Department of Neurology, University Hospital Dupuytren, 2 avenue Martin Luther
King, 87042 Limoges, France; National reference center ‘neuropathies
périphériques rares’, University Hospital Dupuytren, 2 avenue Martin Luther King,
87042 Limoges, France. Electronic address: .

The wide spectrum of hereditary muscular disorders leads to unavoidable
difficulties in their classification, even for specialists. For this reason, new
proposals are required that would ultimately replace our current rather complex
classifications by a simpler structure. Our proposal will be limited to
dystrophic and non-dystrophic myopathies (excluding metabolic disorders,
mitochondriopathies, and channelopathies) for which similar proposals would also
be relevant. Various genes (encoding structural proteins associated with the
sarcolemma, nuclear membrane proteins, and proteins involved in myofiber
metabolism have now been sequenced and mutations ascribed to specific forms of
inherited muscular disorders. Based on our observations and our recent proposals
in other neurogenetic conditions and informal discussions with specialists of
neuromuscular disorders, the prerequisite for a simple and sound classification
for inherited muscular disorders should encompass the clinical and pathological
phenotypes (described in a simple and clear manner), the mode of inheritance, and
the mutated gene. We think that the denomination of the different subtypes could
be simplified considerably, although any new proposal of classification of
muscular disorders will need to be discussed in the neurological and genetic
communities.

Copyright © 2017 Elsevier B.V. All rights reserved.

DOI: 10.1016/j.jns.2017.10.051
PMID: 29249377 [Indexed for MEDLINE]

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