INFORMATION ON HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

Heredopathia Atactica Polyneuritiformis is a rare autosomal recessive condition it is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the brain. Heredopathia Atactica Polyneuritiformis is a rare disorder of lipid metabolism that is inherited as a recessive trait. Heredopathia Atactica Polyneuritiformis is a rare disorder of lipid metabolism that is inherited as a recessive trait. is characterized by the abnormal accumulation of phytanic acid in blood plasma and tissues. Heredopathia Atactica Polyneuritiformis affects less than 200,000 people in the US population.

SYNONYMS OF HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

Synonyms and related keywords:

1. Acid Storage Disease.
2. Retinitis pigmentosa.
3. Refsum Disease.
4. Phytanic Acid Storage Disease.
5. Heredopathia Atactica Polyneuritiformis.

CAUSES OF HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

The main causes of Heredopathia Atactica Polyneuritiform are:

1 It is inherited from parental and transfer to the child.
2 Absence of absence of peroxisome cells in the body.
3 The peroxisome is responsible for the breakdown of certain branched chain fatty acids.
4 High levels of phytanic acid build up in the bloodstream and in tissues, causing neurological and ophthalmologic damage.

SYMPTOMS OF HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

Symptoms of Heredopathia Atactica Polyneuritiform :

1 Vision impairments.
2 Retinitis pigmentosa.
3 Peripheral neuropathy.
4 Ataxia.
5 Impaired hearing.
6 Bone changes.
7 Skin changes.
8 Night blindness followed by a gradual loss of peripheral vision.

DIAGNOSIS OF HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

Diagnosis can be done as under:

1 The level of phytanic acid in the blood and tissues can be measured.
2 Specific tests can be done looking for the broken gene that causes the disease.
3 Examine of electrocardiogram is done to determine if the heart is affected by disease.
4 Diagnosed though a combination of consistent medical history, physical exam findings, and laboratory and genetic testing.

TREATMENT OF HEREDOPATHIA ATACTICA POLYNEURITIFORMIS

The primary treatment for Heredopathia Atactica Polyneuritiform is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. It also includes restricting foods that contain phytanic acid. Plasmapheresis may also be required. Individuals with Heredopathia Atactica Polyneuritiform should have their heart monitored regularly by a physician. A neurologist can evaluate and monitor individuals with peripheral neuropathy and ataxia. Lotions may help control skin problems.