Living with Severe neurodegenerative syndrome with lipodystrophy
A rare genetic condition that affects the brain and nerves, and also body fat, the liver and muscles.
Understanding Severe neurodegenerative syndrome with lipodystrophy
People lose skills over time, with unsteady walking, stiff muscles, loss of language and intellectual disability. Some develop weakness in all four limbs. They also have varying degrees of lipodystrophy (loss of body fat), an enlarged liver, high blood fats and larger muscles. Hyperactivity, tremor and seizures may also occur. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills over time
- Unsteady movements (ataxia)
- Stiff muscles (spasticity)
- Loss of body fat (lipodystrophy)
- Body doesn't respond to insulin
- Seizures
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, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in BSCL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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
GARD lists changes in the BSCL2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: encephalopathy, progressive, with lipodystrophy; encephalopathy, progressive, with or without lipodystrophy; severe neurodegenerative syndrome due to bscl2 deficiency
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe neurodegenerative syndrome with lipodystrophy.
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