icd 9 code for sandoff disease

What is Sandhoff disease?

Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body.

What type of mutation is Sandhoff disease?

Sandhoff disease is caused by harmful mutations in a gene called HEXB. These gene mutations cause decreased amounts of two important enzymes: beta-hexosaminidase A and beta-hexosaminidase B.

How was Sandhoff disease discovered?

Drs. Horst Jatzkewitz, Hartmut Pilz, and Konrad Sandhoff first noticed Sandhoff disease in Germany in 1965. Initially these men were studying the biochemistry of different enzymes and found an exceptional case of Tay-Sachs.

What is lipid storage disorder?

Definition. Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body. Lipids are important parts of the myelin sheath that coats and protects the nerves.

What is Sandhoff disease?

Sandhoff disease is an inherited lipid storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. [1] [2] The most common and severe form of Sandhoff disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Other forms of Sandhoff disease have been described where much milder signs and symptoms begin in childhood, adolescence, or adulthood. These forms are very rare. Sandhoff disease is caused by mutations in the HEXB gene. [1] These mutations cause a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body. [2] Sandhoff disease is inherited in an autosomal recessive manner. [1]

What are the characteristics of Sandhoff disease?

Characteristic features include muscle weakness, loss of muscle coordination ( ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease. [1]

How long does it take for a child to develop Sandhoff disease?

Infants with the classic form of Sandhoff disease typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Affected infants typically lose motor skills such as turning over, sitting, and crawling.

Is Sandhoff disease inherited?

Sandhoff disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [1]

Can children with Sandhoff disease live into childhood?

[1] [2] Children with the severe infantile form of Sandhoff disease usually live only into early childhood. [1] Forms of Sandhoff disease where the symptoms develop after infancy are very rare.

Is Sandhoff disease autosomal recessive?

[2] . Sandhoff disease is inherited in an autosomal recessive manner. [1]

What are the symptoms of a g-m2 ganglioside?

Signs and symptoms include progressive motor and mental deterioration , early blindness, macrocephaly, seizures, and hepatosplenomegaly. An autosomal recessive neurodegenerative disorder characterized by an accumulation of g (m2) ganglioside in neurons and other tissues.

Is Tay-Sachs disease inherited?

Clinically, it is indistinguishable from tay-sachs disease. Autosomal inherited disease caused by deficiency of the enzymes hexosaminidase a and b which leads to an accumulation of gm2 ganglioside and the sphingolipid globoside in neurons and other organs; clinical manifestations resemble tay-sachs disease.

ICD-10-CM Alphabetical Index References for 'E75.01 - Sandhoff disease'

The ICD-10-CM Alphabetical Index links the below-listed medical terms to the ICD code E75.01. Click on any term below to browse the alphabetical index.

Equivalent ICD-9 Code GENERAL EQUIVALENCE MAPPINGS (GEM)

This is the official approximate match mapping between ICD9 and ICD10, as provided by the General Equivalency mapping crosswalk. This means that while there is no exact mapping between this ICD10 code E75.01 and a single ICD9 code, 330.1 is an approximate match for comparison and conversion purposes.