National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Neutral lipid storage disease with myopathy


Other Names:
NLSDM; Neutral lipid storage disease without ichthyosis
Categories:
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern.[1] There is currently no treatment to correct the underlying metabolic problem.[2]
Last updated: 5/8/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Fatty replacement of skeletal muscle 0012548
Increased intramyocellular lipid droplets 0012240
Progressive proximal muscle weakness 0009073
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
30%-79% of people have these symptoms
Abnormal circulating creatine kinase concentration
Abnormal levels of creatine kinase in blood
0040081
Cardiomyopathy
Disease of the heart muscle
0001638
Difficulty running 0009046
Difficulty walking
Difficulty in walking
0002355
Easy fatigability 0003388
Elevated hepatic transaminase
High liver enzymes
0002910
Fasciculations
Muscle twitch
0002380
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Gowers sign 0003391
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hypertriglyceridemia
Increased plasma triglycerides
Increased triglycerides
Increased serum triglycerides
[ more ] 		0002155
Increased lactate dehydrogenase level 0025435
Motor delay 0001270
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Myopathy
Muscle tissue disease
0003198
Pelvic girdle muscle weakness 0003749
Very long chain fatty acid accumulation 0008167
5%-29% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Chronic pancreatitis
Chronic pancreas inflammation
0006280
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Diabetes mellitus 0000819
Foot dorsiflexor weakness
Foot drop
0009027
Generalized limb muscle atrophy
Generalized muscle wasting
0009055
Hand muscle weakness 0030237
Hepatomegaly
Enlarged liver
0002240
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Neck muscle weakness
Floppy neck
0000467
Progressive distal muscle weakness 0009063
Rimmed vacuoles 0003805
Sensorineural hearing impairment 0000407
Short stature
Small stature
Decreased body height
[ more ] 		0004322
1%-4% of people have these symptoms
Cholecystitis
Gallbladder inflammation
0001082
Delayed ability to walk 0031936
Pineal cyst 0012683
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ] 		0003546
Increased muscle lipid content
Fat accumulation in muscle fibers
Fat deposits in muscle fibers
Lipid accumulation in skeletal muscle
Skeletal muscle lipid accumulation
[ more ] 		0009058
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Slow progression
Signs and symptoms worsen slowly with time
0003677
Variable expressivity 0003828
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Last updated: 7/1/2020
Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy.[1]

PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.[1]
Last updated: 5/8/2014
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 5/8/2014

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity.[3] Additional studies into this therapy are needed. 
Last updated: 5/8/2014

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Neutral lipid storage disease with myopathy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Neutral lipid storage disease with myopathy. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neutral lipid storage disease with myopathy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

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  1. Neutral lipid storage disease with myopathy. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy. Accessed 5/8/2014.
  2. Fischer J, Negre-Salvayre A, Salvayre R. Neutral lipid storage disease. Orphanet. March 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=165. Accessed 5/8/2014.
  3. van de Weijer et al. Effects of bezafibrate treatment in a patient and a carrier with mutations in the PNPLA2 gene, causing neutral lipid storage disease with myopathy. Circ Res. 2013 Mar 1; 112(5):e51-4. http://circres.ahajournals.org/content/112/5/e51.long. Accessed 5/8/2014.