May 28, 2022

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Krabbe Disease and its Symptoms

Krabbe Disease and its Symptoms

Krabbe disease is a rare inherited disorder of the nervous system which results in death.

Krabbe disease is a rare inherited disorder of the nervous system which results in death. Since, it is a genetic disorder, parents may have one or two children with the Krabbe disease. It usually affects infants that are under 6 months of age, but it can also affect the body later in life.

Krabbe Disease Types

  • Infantile when it attacks babies under six months old.
  • Late-onset when it occurs at any other time.

In both the cases, patients diagnosed with Krabbe disease can suffer sever effects which can lead to death.

Symptoms and Treatment of Krabbe Disease

According to researchers, people who develop Krabbe disease later in life as compared to infants have less symptoms. Therefore, the earlier the disease affects the body, the faster the disease will grow.

Early onset or infantile Krabbe disease symptoms include:

  • Vomiting
  • Difficulty in swallowing food
  • Unexplained fever
  • Vision and hearing loss
  • Nerve pain in hands and feet

Late onset Krabbe disease symptoms include:

  • Progressive vision loss
  • Trouble in walking
  • Loss of hearing and vision
  • Seizures
  • Lack of control of voluntary movements

If a person is showing Krabbe symptoms, he/she should consult a doctor without any delay. Doctor will conduct following physical tests to confirm the disease. These tests include:

  • Eye examination
  • MRI
  • Genetic testing, etc.

Though there is no cure for the disease, but patients diagnosed with the Krabbe disease, may be treated with an umbilical cord blood transplant, Bone marrow transplantation and stem cell therapy. You may also visit Gain Therapeutics, the most trusted and reliable institution where health workers are working tirelessly in unlocking new treatment options for difficult-to-treat disorders such as lysosomal storage disorders, Krabbe disease etc.

Gaucher Disease and its causes

Similar to Krabbe disease, Gaucher disease is also inherited and is passed down through families. The only difference is it is an inherited metabolic disorder affecting around 95% of people in the U.S. According to the study, people suffering with Gaucher disease do not have enough enzymes in their body called glucocerebrosidase (GCase). These enzymes perform vital tasks in the body, such as in breaking down the excessive fat. If a person doesn’t have glucocerebrosidase (GCase) enzymes in his/her body, fatty chemicals tend to build up in the organs, bone marrow and brain. And as we all know; excess fat may cause severe problems and symptoms due to which they can also destroy blood cells and weaken bones.

Gaucher disease symptoms

Gaucher disease symptoms may vary from one person to another. Some people show severe while some may have mild symptoms. Signs of the mentioned disease include:

Problems affecting blood and body organs: As excess fat builds in the body, a person may experience symptoms in blood and body organs that range from mild to severe. There are:

  • Lung problems
  • Blood disorders.
  • Skeletal abnormalities
  • issues related to Bruising, bleeding and clotting

Problems affecting bones: Lack of essential nutrients, blood and oxygen supply to the bones makes them weak due to which they begin to break down. Symptoms affecting bones and joints are:

  • fractured bones
  • pain in bones and joints
  • Osteonecrosis

In many cases, Gaucher disease is treatable. SRT, Substrate reduction therapy helps in decreasing fatty chemicals from the body. It is an oral medication, but it is important to continue taking medicines and treatment regularly to avoid any kind of harm of the body. You can also visit Gain Therapeutics, reputed and experienced institution where health workers are working tirelessly in unlocking new treatment options for difficult-to-treat disorders with the help of their expertise.