Titre :
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Dropped head syndrome related to centronuclear myopathy mimicking amyotrophic lateral sclerosis
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contenu dans :
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Auteurs :
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ;
Lenglet T ;
Stojkovic T ;
Maisonobe T ;
Kolev I ;
Wardi R ;
Vicart S ;
Dubourg O ;
Pradat PF
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Type de document :
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Article
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Année de publication :
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2011
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Pages :
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p. 61
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Langues:
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Anglais
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Mots-clés :
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colloque
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Résumé :
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Objective : To report a case of Dropped Head Syndrome (DHS) with initial presentation suggestive of amyotrophic lateral sclerosis (ALS) and that led to the diagnosis of Centronuclear Myopathy (CM).Background : Isolated or prominent weakness of cervical extensor known as DHS can occurs in a variety of neuromuscular diseases. CM are a group of congenital myopathies defined by mislocalization of muscle fiber nuclei. Phenotype may be mild, moderate or severe depending on the causative gene. Design/Method: Case reportResult : A 63years old man with no family history of neurological disorders presented recent difficulties keeping his head straight. On examination he had DHS with muscle weakness limited to neck extensors and shoulder girdle muscles. Deep tendon reflexes were normal and symmetric and there was no other neurological deficit. Cervical MRI showed mild cervical arthrosis. Serum creatine kinase level was normal. Nerve conduction study was unremarkable. EMG study at rest retrieved a big amount of fibrillation potentials and pseudo-myotonic discharges in muscles of the four limbs. Recruitment pattern during active contraction was considered as normal except a relatively poor recruitment in the cervical muscles. On the basis of the EMG study, the diagnosis of possible ALS was considered and a treatment with riluzole was started. After a follow up of 18 months neurological findings remained stable. EMG findings were similar except needle examination of the right deltoid that showed a mild increased recruitment pattern with motor unit potentials of short duration. A muscle biopsy of the right deltoid showed the presence of an abnormally high number of muscle fibers with nuclei organised in rows in the central part of the fibre that was characteristic of CM. Genetic testing is still in progress.Conclusion :1) This is the first report of a CM revealed by a DHS2) EMG study was remarkable because of diffuse intense spontaneous activity of fibrillation in contrast with a near normal recruitment that did not specify neuropathic or myopathic process. The same pattern of abnormalities in detection study is sometimes observed in other myopathies with vacuoles such as maltase acid deficiency or inclusion body myositis.
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