Krabbe disease is known as a rare genetic and neurodegenerative disease. This disease, which has negative effects on the brain and nervous system, occurs especially in childhood, but can also be seen in adults. Krabbe disease causes serious health problems due to damage to the myelin sheath in the brain and the inability of nerve cells to fulfill their functions. In this article we have written for you, we will try to answer the questions about the causes, symptoms, and diagnosis of Krabbe disease.
What Causes Krabbe Disease?
Krabbe disease occurs due to the deficiency or absence of the enzyme galactosylceramidase, which is a genetic disorder and leads to excessive accumulation of galactosylceramide lipid. This leads to damage to the myelin sheath in the brain and the inability of nerve cells to function. The disease is inherited as an autosomal recessive trait. This means that if both parents are carriers of the disease-causing gene, their children are at risk of developing the disease.
What Are The Symptoms Of Krabbe Disease?
The symptoms of Krabbe disease may vary depending on the age of onset and the course of the disease. However, the following symptoms can be observed in general;
- Developmental retardation and loss of skills,
- Decreased or increased muscle tone,
- Weakness in the arms and legs,
- Difficulty swallowing,
- Loss of appetite and weight loss,
- Irritability and constant crying,
- Hearing and vision loss,
- Seizures and incoordination,
- Mental retardation and learning disabilities,
How Is Krabbe’s Disease Diagnosed?
The diagnosis of Krabbe disease is based on clinical symptoms and laboratory tests. Generally, the evaluation process starts with a history and physical examination and continues with further tests such as blood and urine tests, cerebrospinal fluid analysis, genetic tests and nerve conduction studies. Magnetic resonance imaging (MRI) and computed tomography (CT), brain and nervous system imaging methods, also play an important role in the diagnostic process. The definitive diagnosis of Krabbe disease can be made with genetic tests and measurement of enzyme levels.
What Is Done In The Treatment Of Krabbe’s Disease?
Krabbe disease is a rare genetic disorder that affects the central nervous system. This disease causes damage to the brain and nerve cells, leading to symptoms such as loss of motor skills, sensitivity disorders and mental retardation. People with Krabbe disease usually have a short life expectancy and there is currently no definitive cure for the disease. However, there are some treatment options to improve the quality of life and alleviate symptoms.
- Stem Cell Therapy
One of the most promising treatments for Krabbe’s disease is stem cell therapy. This treatment aims to stop the progression of the disease and alleviate some of the symptoms. Stem cell therapy is performed by transplanting stem cells from the patient’s bone marrow or stem cells from a suitable donor into the patient. This treatment method gives more successful results, especially if it is applied in the early stages of the disease.
- Supportive Treatments for Symptoms
Various supportive therapies can be used to alleviate the symptoms of Krabbe’s disease. These treatments include the following;
- Physiotherapy and rehabilitation applications can be performed to prevent or delay the loss of motor skills. These treatments help to increase the patient’s mobility and reduce muscle weakness.
- Seizures, which are frequently seen in people with Krabbe disease, can be controlled with appropriate medications.
- Painkillers and other methods can alleviate the pain experienced by the patient.
- Special diets and supplements can be applied to meet the nutritional needs of patients.
- Gene Therapy
Since Krabbe disease is a genetic disorder, gene therapy may in the future lead to significant advances in the treatment of this disease. Gene therapy involves studies aimed at correcting faulty genes or genetic modifications that will change the course of the disease. This treatment method is still in the experimental stage and there is no specific gene therapy for Krabbe disease. However, developments in the field of gene therapy may offer new hope for the treatment of this disease in the future.
Stem cell therapy, symptom-supportive therapies, and future gene therapy studies play an essential role in treating Krabbe disease. These treatment modalities can help improve patients’ quality of life and slow the progression of the disease. However, as there is no definitive cure for Krabbe disease, early diagnosis, and intervention are of great importance.
Krabbe’s Disease Treatment Prices in Turkey
Turkey has managed to announce its name to the world with its investments and studies in the field of health. Especially the latest technological devices used in diagnosis and treatment procedures have been a beacon of hope for many diseases. However, there has been an increase in health tourism in Türkiye.
- Hospitals are large, clean, spacious and fully equipped in terms of technological equipment.
- Turkish doctors are specialized, successful, and skilled in their fields.
- Nurses and carers are friendly and compassionate.
- Finding answers to the questions asked quickly and accurately.
- Patience and understanding of all staff, including the intermediary company dealing with the patient.
- Turkey offers holiday opportunities with its natural and historical beauties.
- Easy transportation.
- Diagnosis, treatment, accommodation, eating, drinking, dressing, and holiday needs can be met at affordable prices.
Such situations are shown among the reasons for preference. We can see that patients and relatives of patients who want to come to Turkey are doing research on Krabbe Disease Treatment Prices in Turkey. However, it would not be right to give clear price information at this stage.Türkiye’de Klinefelter Sendromu Tedavi Fiyatları Many factors such as the type of disease, stage, diagnosis process, treatment process, and stay in Türkiye affect the price issue. If you want to get more detailed price information, you can contact us. In addition, if you come to Turkey for treatment through us, we can facilitate your visa application process with the invitation letter sent by us to the consulate.
Prof.Dr. Ergün Dağlıoğlu (Eğitim Görevlisi), Beyin Cerrahı, Beyin Ve Sinir Cerrahisi
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