Neutral lipid storage myopathy

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Neutral lipid storage myopathy

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 December 2023

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Advocacy Organizations

Association Aux Pas du Coeur

Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning 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 so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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