This title appears in the Scientific Report :
2017
Please use the identifier:
http://dx.doi.org/10.1016/j.nmd.2016.09.011 in citations.
Tubular aggregates in autoimmune Lambert–Eaton myasthenic syndrome
Tubular aggregates in autoimmune Lambert–Eaton myasthenic syndrome
Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert–Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement o...
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Personal Name(s): | Cordts, Isabell |
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Funk, Fabian / Schulz, Jörg B. / Weis, Joachim / Claeys, Kristl G. (Corresponding author) | |
Contributing Institute: |
Jara-Institut Quantum Information; INM-11 |
Published in: | Neuromuscular disorders, 26 (2016) 12, S. 880 - 884 |
Imprint: |
Amsterdam [u.a.]
Elsevier Science
2016
|
PubMed ID: |
27816328 |
DOI: |
10.1016/j.nmd.2016.09.011 |
Document Type: |
Journal Article |
Research Program: |
(Dys-)function and Plasticity |
Publikationsportal JuSER |
Tubular aggregates are accumulations of densely packed tubules in muscle fibers, occurring in distinct hereditary and acquired disorders. We present a patient with tubular aggregates and autoimmune Lambert–Eaton myasthenic syndrome. Initially, he showed mild proximal weakness, borderline decrement on 3 Hz stimulation, and slightly elevated creatine kinase. Muscle biopsy revealed tubular aggregates in type II fibers. Due to a good response to pyridostigmine, a limb-girdle myasthenia with tubular aggregates was suspected, but genetic analyses of GFPT1, DPGAT1, and ALG2 were normal. Two years later, the patient presented with progressive weakness and autonomic dysfunction. 17% decrement on 3 Hz stimulation and 100% increment after brief exercise were revealed. Autoantibodies to voltage-gated calcium-channels confirmed the diagnosis of Lambert–Eaton myasthenic syndrome. Steroids, azathioprine, and 3,4-diaminopyridine significantly improved symptoms. No tumor was found during follow-up. This is the first report about tubular aggregates associated with an acquired myasthenic syndrome. Our findings are important because of the therapeutic implications. |