Genetic disorders are the reasons for various diseases. Some rare forms of genetic issues in the nervous system. Krabbe disease is also a form of brain disease that is also called leukodystrophy. The cause of the defect is a genetic problem in the GALC gene.

  • People suffering from this disease are unable to produce an enzyme called galactocerebroside beta-galactosidase.
  • This enzyme is necessary for the body to form the myelin sheath that will protect the nerve fibers.
  • Without the presence of this enzyme, myelin will break down causing brain cell death.

The nerves will also fail to work properly.

The onset of the disease

Krabbe disease can affect people at various points of age.

  • In the initial months of life, Krabbe disease can affect children who may not even live up to 2 years.
  • The late onset of the disease happens during early adolescence or late childhood.

The genetic disorder is inherited. So it will pass down the family genetic line.

Symptoms of the disease–

It is time for you to learn about the symptoms that help in detecting the patients diagnosed with Krabbe disease:

  • Loss of hearing ability leading to deafness
  • Difficulties in feeding
  • Sensitivity and irritability to loud noise
  • Muscle becomes rigid
  • Loss of vision
  • Unexplained fevers
  • Vomiting suffering from walking difficulties owing to the rigidity of the muscles.

Gaucher disease

Another rare form of genetic disease that can pass through the generations in an affected family is the Gaucher Disease. if you are suffering from the condition, you will miss an enzyme that will break down the lipid molecules in your body.

And there will be a significant deposition of fat particles in different organs like the liver and spleen. It can cause different symptoms in the body. Enlargement of the liver and spleen are the common effect of the disease.

There can be 3 types of the disease:

Type #1: this will be the most common form of the disease. It affects more than 90% of the patients who suffer from Gaucher disease. If you are suffering from this type, you won’t have enough platelets in your blood.

Type #2: it will affect babies between 3 to 6 months of age. It can be fatal and the child may not live for more than 2 years.

Type #3: in this type, the common symptoms include skeletal problems, frequent seizures, a disorder in eye movements and even breathing issues.

Symptoms:

And now, you should learn about the common gaucher disease symptoms: 

  • Enlargement of spleen
  • Enlargement of lover
  • Yellow spots in the eyes of the patient
  • Bruises
  • Lung disorders
  • Seizures
  • A lack of healthy RBC leads to anemia.

Some people may have mild symptoms that will first occur during childhood.

Treatments

Both of the above diseases are genetic disorders that don’t have such cures. However, there are treatment plans that can help in managing the symptoms. Accuracy of the diagnosis is necessary for the right approach to the treatment.