The peripheral nervous system is disrupted, resulting in an overabundance of the RMR22 gene. Such a violation leads to a loss of sensitivity of the lower and upper extremities. A person suffering from this disease does not feel pain and temperature changes.
Clinical manifestations
• In most patients (75%), the disease manifests itself before 10 years of life. In a smaller number of patients (25%), the disease is detected by the age of 20.
• The work of the flexors of the feet is disrupted. Hypertrophy and gait disorders are detected.
• Deformation of the feet.
• The distal parts of the hands are affected.
Deformed muscles lose their superficial and deep sensitivity.
• Tremor of the upper extremities is observed.
• Reduction of tendon reflexes.
Characteristic symptoms of the disease
• Thickening of nerve trunks, determined by palpation.
• Slow progression of the disease.
• Tremor of the hands.
• Lameness.
• Deformity of the muscles of the arms and legs.
• Loss of sensitivity in deformed muscle areas of the body.
Etiology of the disease
Scientists have found that the clinical manifestations of this disease depend on the presence of copies of the RMR22 gene (peripheral myelin protein). At the same time, it has been scientifically proven that the disease can occur through new mutations, for most of which paternal genes are responsible (89%), and maternal genetic data is responsible for a very small percentage (11%).
There are several descriptions of the disease, which was accompanied by mental retardation, combined with the clinical manifestation of peripheral neuropathy. This combination was accompanied by the presence of dysmorphic facial features in patients, the presence of visual pathologies.
What is the main danger of the disease?
The degree of danger of the disease is always very high for its owner. The fact is that the above-mentioned symptoms and clinical manifestations of pathology give a complete picture of what the presence of hereditary sensory neuropathy threatens. The inability to feel pain is a serious danger and threatens that a person, having injured himself, may not notice that he is bleeding. Dislocation of joints in such a disease often turns into a fracture. An abrasion or wound, unnoticed by the patient, can result in infection at the site of skin damage and gangrene.
The inability to feel temperature changes exposes the human body to another danger, in which it is possible to burn or freeze a limb without even feeling what happened. All these arguments are very important for human health and life.
Is it possible to treat hereditary sensory neuropathy of the first type?
Since the disease is genetic and inherited, there is no way to influence its occurrence and manifestation through treatment.
Specialists can only advise on the prevention of the disease, which is carried out during the prenatal diagnosis. Such a diagnosis is made in order to identify a mutated gene in DNA among relatives. https://liraspincasino.com
