Living with Neutral lipid storage myopathy
An inherited condition where fat builds up in muscles and other organs, causing muscle weakness that usually shows up in adulthood.
Understanding Neutral lipid storage myopathy
Fat builds up in muscle tissue throughout the body, leading to muscle weakness (myopathy). Other features can include a fatty liver, a weakened and enlarged heart (cardiomyopathy), inflammation of the pancreas, low thyroid activity, and type 2 diabetes. Symptoms vary a lot from person to person. GARD lists adult as the usual time of onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the muscles closest to the center of the body
- Weak hip and shoulder muscles
- Difficulty running
- Tiring easily (easy fatigability)
- Disease of the heart muscle (cardiomyopathy)
- Muscle aches and twitching
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PNPLA2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PNPLA2 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: neutral lipid storage disease with myopathy; neutral lipid storage disease with myopathy without ichthyosis; neutral lipid storage disease without ichthyosis; nlsdm
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesNeutral lipid storage myopathy · United States
- Gabby's Wonderful WorldNeutral lipid storage myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Neutral lipid storage myopathy.
Explore research for Neutral lipid storage myopathy
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