Abstract Details

Title Clinical, Serological and Pathological Findings of Three Patients with Myasthenia Gravis and Immune Rippling Muscle Disease in Argentina

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P02 - (-)

Poster/Presentation
Number 201

Objective

Background BACKGROUND: Rippling muscle disease (RMD) is a rare and generally benign disorder characterized by muscle stiffness, muscle hypertrophy, and self-propagating rippling of muscles induced by stretch or percussion. Dominant and recessive mutations in the gene encoding caveolin-3 (CAV3) have been reported. An acquired form has been described in 1996: the immunogenic Rippling Muscle Disease (iRMD).

Design/Methods DESIGN/METHODS: Three patients with myasthenic iRMD were identified in different neuromuscular centers in Argentina.

Results RESULTS: Three patients (1 female, 2 male, aged 55 to 62 years) with myasthenic iRMD were identified. All of them presented with exercise- and rippling-induced myalgia combined with generalized MG symptoms. MG fluctuates from mild oculo-bulbar symptoms to MG crisis (MGFA status V). In two patients, MG appeared before iRMD. AChR-antibodies titers were positive in the three patents and mediastinal imaging excluded thymic hypertrophy or thymoma. Muscle biopsy showed a myopathic pattern with few atrophic fibres, internal nuclei and scattered inflammation. Immunohistochemistry revealed a mosaic pattern of reduction of caveolin-3. They were successfully treated with plasma exchange, steroids and azathioprine.

Conclusions CONCLUSIONS: The relationship of acquired RMD with MG (iRMD-MG) is unclear and few cases have been described to date. We here report three new patients with iRMD and AChR-antibody positive myasthenia gravis (MG) in Argentina.

Authors/Disclosures
Mariela Bettini, MD (Hospital Italiano DE. BS. AS.) PRESENTER	Dr. Bettini has nothing to disclose.
	No disclosure on file
Marcelo Chaves (Merck Serono Argentina)	No disclosure on file
Silvia Christiansen	No disclosure on file
Alejandra Figueredo, DO (Sanofi-Aventis)	No disclosure on file
Burk Jubelt, MD (SUNY Upstate Medical University)	No disclosure on file
	No disclosure on file
Alberto L. Dubrovsky, MD	No disclosure on file
Edgardo Cristiano, MD (Hospital Italiano De Buenos Aires)	Dr. Cristiano has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Cristiano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Biogen. Dr. Cristiano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Genzyme. Dr. Cristiano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche. Dr. Cristiano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Merck.
Marcelo F. Rugiero, MD	No disclosure on file

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