Differenzialdiagnostik eines kongenitalen myasthenen Syndroms

Translated title of the contribution: Differential diagnosis of congenital myasthenic syndromes

S. Spuler, T. N. Lehmann, Andrew G Engel

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (ε1276delG).

Original languageGerman
Pages (from-to)141-144
Number of pages4
JournalNervenarzt
Volume75
Issue number2
DOIs
StatePublished - Feb 2004

Fingerprint

Congenital Myasthenic Syndromes
Differential Diagnosis
Neuromuscular Junction Diseases
Limb-Girdle Muscular Dystrophies
Myotonia Congenita
Ophthalmoplegia
Cholinergic Receptors
Muscular Diseases
Mutation
Therapeutics

Keywords

  • Acetylcholine esterase inhibitor
  • Congenital myasthenic syndrome
  • Congenital myopathy
  • Mitochondriopathy
  • Ophthalmoplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Neurology

Cite this

Differenzialdiagnostik eines kongenitalen myasthenen Syndroms. / Spuler, S.; Lehmann, T. N.; Engel, Andrew G.

In: Nervenarzt, Vol. 75, No. 2, 02.2004, p. 141-144.

Research output: Contribution to journalArticle

Spuler, S. ; Lehmann, T. N. ; Engel, Andrew G. / Differenzialdiagnostik eines kongenitalen myasthenen Syndroms. In: Nervenarzt. 2004 ; Vol. 75, No. 2. pp. 141-144.
@article{90b340cbde0646ee97b1e5030ed3523a,
title = "Differenzialdiagnostik eines kongenitalen myasthenen Syndroms",
abstract = "Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (ε1276delG).",
keywords = "Acetylcholine esterase inhibitor, Congenital myasthenic syndrome, Congenital myopathy, Mitochondriopathy, Ophthalmoplegia",
author = "S. Spuler and Lehmann, {T. N.} and Engel, {Andrew G}",
year = "2004",
month = "2",
doi = "10.1007/s00115-003-1614-2",
language = "German",
volume = "75",
pages = "141--144",
journal = "Der Nervenarzt",
issn = "0028-2804",
publisher = "Springer Verlag",
number = "2",

}

TY - JOUR

T1 - Differenzialdiagnostik eines kongenitalen myasthenen Syndroms

AU - Spuler, S.

AU - Lehmann, T. N.

AU - Engel, Andrew G

PY - 2004/2

Y1 - 2004/2

N2 - Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (ε1276delG).

AB - Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (ε1276delG).

KW - Acetylcholine esterase inhibitor

KW - Congenital myasthenic syndrome

KW - Congenital myopathy

KW - Mitochondriopathy

KW - Ophthalmoplegia

UR - http://www.scopus.com/inward/record.url?scp=1442277076&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1442277076&partnerID=8YFLogxK

U2 - 10.1007/s00115-003-1614-2

DO - 10.1007/s00115-003-1614-2

M3 - Article

C2 - 14770284

AN - SCOPUS:1442277076

VL - 75

SP - 141

EP - 144

JO - Der Nervenarzt

JF - Der Nervenarzt

SN - 0028-2804

IS - 2

ER -