Krabbe Disease – What is it, Symptoms and Treatments!

Krabbe Disease – What it is, Symptoms and Treatments of this condition. In addition, Krabbe Disease is a rare and often deadly nervous system disorder. It is an inherited genetic disease, which means it is passed down in families.

People with Krabbe Disease are not able to make enough of a substance called galactosylceramidase, which is needed to make myelin.

Myeloma is a material your body uses to surround and protect nerve fibers. Without this protection, brain cells will die, and nerves in the brain and other parts of the body will not function properly.

Krabbe Disease is mostly seen in infants (onset to age 6 months), but it can also develop later in life. Unfortunately, there is currently no cure for Krabbe Disease , and most babies with this disease will die before age 2.

Causes of Krabbe Disease: Krabbe Disease is a genetic disorder, which means that a person inherits the disease from their parents. It is caused by a genetic mutation – a permanent change in the DNA sequence that makes up a certain gene. The mutation affects the message the gene sends to cells in your body.

The Krabbe Disease gene can be found on chromosome 14. A child needs to get an abnormal gene from both parents to inherit the disease. The abnormal gene results in a lack of an important enzyme your body needs called galactosylceramidase (GALC).

Your body needs GALC to create and maintain myelin, a substance that surrounds and helps protect your nerves. In people with Krabbe Disease , who lack GALC, a substance called galactolipids will build up in the brain . Galactolipids are stored by cells called globoid cells. For this reason, Krabbe Disease is sometimes also called globoid cell leukodystrophy. There are two types of Krabbe Disease :

  • Early -onset Krabbe Disease occurs in the first few months after birth, usually before a baby reaches 6 months of age.
  • Late -onset Krabbe Disease occurs later in childhood or early adolescence.

Symptoms of Krabbe Disease: In general, the younger the onset of Krabbe Disease , the faster the disease will progress. People who develop Krabbe Disease later in life may have less severe symptoms than babies who get the disease.

Early-onset Krabbe Disease: Symptoms of early-onset Krabbe Disease include :

  • Feeding problems;
  • fevers;
  • Vômito persistente;
  • Perda de controle de cabeça;
  • Irritabilidade e choro excessivo;
  • Má coordenação de movimento ou rigidez;
  • Apreensões;
  • Espasmos musculares (especialmente braços e pernas);
  • Mudanças no tônus ​​muscular;
  • Deterioração da função mental e motora;
  • Surdez e cegueira.

Doença de Krabbe de início tardio: Os sintomas da Doença de Krabbe de início tardio em crianças e adolescentes mais velhos incluem:

  • Perda progressiva de visão levando à cegueira;
  • Dificuldade em andar (ataxia);
  • Fracas habilidades de coordenação das mãos;
  • Fraqueza muscular ou músculos rígidos.

Risk Factors for Krabbe Disease: Krabbe Disease is very rare. According to the Mayo Clinic, the disease affects about 1 in every 100,000 people in the United States. It occurs most often in people of Scandinavian descent. A child has a one in four chance of developing the disorder if both parents have the defective gene.

Diagnoses of Krabbe Disease: Your doctor will perform a physical exam to look for symptoms. The doctor will take a biopsy sample of blood or skin tissue and send it to a laboratory for analysis. The laboratory can test the GALC enzyme activity in the sample. If GALC activity levels are too low, the child may have Krabbe Disease . The following tests may also be performed to confirm a diagnosis:

  • Imaging tests (MRI) of the brain to look for abnormalities;
  • Nerve conduction studies to measure the speed at which electrical impulses are sent through the nervous system;
  • Eye examination to look for signs of optic nerve damage;
  • Genetic testing to detect the genetic defect that causes Krabbe Disease .

Krabbe Disease Treatments: There is no cure for Krabbe Disease . However, the following treatments can be given to patients to help relieve their symptoms:

  • Anticonvulsant medication for seizures ;
  • Muscle relaxant drugs (to help relieve muscle spasms)
  • Physiotherapy to help decrease muscle deterioration;
  • Occupational therapy to help older children with common tasks such as dressing and eating.

Research has found two procedures that may have an effect on the progression of Krabbe Disease , rather than just treating the symptoms: bone marrow transplantation (also called hematopoietic stem cell transplantation) and cord blood transplantation.

During these procedures, a person with Krabbe Disease receives cells from a healthy person. The new cells are able to make the GALC enzyme that the patient could not make on his own. Both procedures have their own risks.

Bone Marrow Transplant: An adult will give some bone marrow (a material found in bones) to replace bone marrow in a child suffering from Krabbe Disease . The best results were only in patients with late-onset Krabbe disease who were treated before severe symptoms developed. It was not helpful in infants with early-onset Krabbe disease who already developed symptoms.

Umbilical Cord Blood Transfusion: A doctor will transfuse umbilical cord blood stem cells into the patient. The cells are obtained from the umbilical cord of a donor who is not related to the patient. However, this procedure has also been shown to help only those patients treated before symptoms appear.

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