Neutral lipid storage myopathy

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Synonyms: NLSDM | Neutral lipid storage disease with myopathy without ichthyosis

A form of neutral lipid storage disease characterized by adult onset of slowly progressive typically proximal muscular weakness of the upper and lower limbs associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional variable manifestations include hepatomegaly diabetes mellitus and hypertriglyceridemia among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans’ anomaly) as well as massive accumulation of lipid droplets in muscle tissue.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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Neutral lipid storage myopathy?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

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Clinical Trials

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