Sandhoff disease
A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
Also known as: GM2 gangliosidosis 0 variant, GM2 gangliosidosis, 0 variant, Hexosaminidases A and B deficiency, Sandhoff Jatzkewitz disease, Sandhoff disease.
Category: General
Symptoms associated with Sandhoff disease
The following symptoms have been associated with Sandhoff disease in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Chronic diarrhea
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks....
Episodic abdominal pain
An intermittent form of abdominal pain....
Muscle weakness
Reduced strength of muscles....
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Tests used to investigate Sandhoff disease
Healthcare providers may order these tests when evaluating Sandhoff disease. 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 Sandhoff disease, which is why a clinical evaluation is important.
Krabbe disease
Krabbe disease is a medical condition that may be associated with various symptoms and signs....
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a medical...
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima
neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima is a medical condition that may be as...
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures is a medical condition t...
neurodevelopmental disorder with variable familial hypercholanemia
neurodevelopmental disorder with variable familial hypercholanemia is a medical condition that may be associat...
Frequently Asked Questions
What is Sandhoff disease?
Sandhoff disease is a health condition described in medical literature. A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
What are the symptoms of Sandhoff disease?
Sandhoff disease is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Blindness, Chronic diarrhea, Episodic abdominal pain, Muscle weakness, Myoclonic seizure. Symptoms vary widely between individuals.
How is Sandhoff disease diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Sandhoff disease 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 Sandhoff disease, please discuss your symptoms with a qualified healthcare provider.