Opsoclonus Myoclonus Ataxia Syndrome

Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of OMS has been made. Brief…

Schwartz-Jampel Syndrome (SJS)

The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood, moderate bone dysplasia. Type…

Nesprinopathies

Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane,…

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