Living with Congenital generalized lipodystrophy type 4
A rare condition with almost no body fat, strong-looking muscles, insulin-resistant diabetes and an enlarged liver.
Understanding Congenital generalized lipodystrophy type 4
Other features include insulin-resistant diabetes, high blood fats, an enlarged liver and a high metabolism. Muscle weakness and stiffness are also listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Almost no body fat (lipodystrophy)
- Muscle bulk with weakness and stiffness
- Enlarged liver and spleen
- Tight joints that cannot straighten
- Curved spine (scoliosis)
- Repeated pneumonia
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Lipodystrophy United
- 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 doesn't name a gene here. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: berardinelli-seip congenital lipodystrophy type 4 with muscular dystrophy; berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy; bscl4; cavin1 congenital generalised lipodystrophy (disease); cavin1 congenital generalized lipodystrophy (disease); cgl4
Patient organizations
- Lipodystrophy UnitedCongenital generalized lipodystrophy type 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital generalized lipodystrophy type 4.
Explore research for Congenital generalized lipodystrophy type 4
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