congenital generalized lipodystrophy type 4
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.
Also known as: BSCL4, CAVIN1 congenital generalised lipodystrophy (disease), CAVIN1 congenital generalized lipodystrophy (disease), CGL4, GCL4, congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1, congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1, lipodystrophy, congenital generalized, type 4.
Category: General
Symptoms associated with congenital generalized lipodystrophy type 4
The following symptoms have been associated with congenital generalized lipodystrophy type 4 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Muscle weakness
Reduced strength of muscles....
Myalgia
Pain in muscle....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Tests used to investigate congenital generalized lipodystrophy type 4
Healthcare providers may order these tests when evaluating congenital generalized lipodystrophy type 4. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with congenital generalized lipodystrophy type 4, which is why a clinical evaluation is important.
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mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
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multiple mitochondrial dysfunctions syndrome 9b
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muscular dystrophy-dystroglycanopathy type B5
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with va...
Frequently Asked Questions
What is congenital generalized lipodystrophy type 4?
congenital generalized lipodystrophy type 4 is a health condition described in medical literature. Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.
What are the symptoms of congenital generalized lipodystrophy type 4?
congenital generalized lipodystrophy type 4 is associated with 7 symptoms in the medical literature we index, including Constipation, Dysphagia, Failure to thrive, Generalized muscle weakness, Muscle weakness, Myalgia. Symptoms vary widely between individuals.
How is congenital generalized lipodystrophy type 4 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital generalized lipodystrophy type 4 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have congenital generalized lipodystrophy type 4, please discuss your symptoms with a qualified healthcare provider.