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Start free with EleplanNeutral lipid storage disease with myopathy
ORPHA:98908Disease
Also called Adipose triglyceride lipase deficiency · NLSDM · Neutral lipid storage disease type M · Neutral lipid storage disease with myopathy without ichthyosis
What it is
A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
17- Abnormal circulating creatine kinase concentration
- Cardiomyopathy
- Difficulty running
- Easy fatigability
- Elevated circulating hepatic transaminase concentration
- Fasciculations
- Gait disturbance
- Generalized hypotonia
- Gowers sign
- Hepatic steatosis
- Hypertriglyceridemia
- Increased circulating lactate dehydrogenase concentration
- Motor delay
- Myalgia
- MyopathyDiagnostic criterion
- Pelvic girdle muscle weakness
- Very long chain fatty acid accumulation
Sometimes5–29%
14- Areflexia
- Chronic pancreatitis
- Congestive heart failure
- Diabetes mellitus
- Foot dorsiflexor weakness
- Generalized limb muscle atrophy
- Hand muscle weakness
- Hepatomegaly
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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