Primary lateral sclerosis

it is a type of pathology of the nervous system, more precisely of the motor neurons, which leads to the loss of control of the body's motility. Patients with primary lateral sclerosis have in the muscles of the upper and lower limbs, facial muscles. Balance problems, loss of dexterity, mastication, swallowing and speech problems can also appear. This type of sclerosis is a rare disease that can appear at any age, but is more frequently diagnosed between the ages of 40 and 60, being more common among men. An even rarer subtype of this sclerosis is juvenile primary lateral sclerosis, which appears in childhood. Regarding the diagnostic difficulties, primary lateral sclerosis is often misdiagnosed as amyotrophic lateral sclerosis, being similar from a clinical point of view.

Article content\n \n \n . ro or from the SfatulMedicului mobile application (iOS, Android)\n . The first motility changes appear in the lower limbs, less often in the upper ones. This pathology has variable consequences on patients, the clinical picture often being different from case to case. Possible signs and symptoms include:\r\n\r\n.

The specialist neurologist is the one who can interpret the symptoms and establish a diagnosis, respectively the pediatric neurologist in the case of affected children. In primary lateral sclerosis, the nerve cells in the brain that control motility progressively degenerate and lose their function over time. Thus the motor neurons are no longer activated and control of the voluntary muscles is lost. Muscles that normally perform voluntary, controlled movements lose this ability and acquire involuntary, uncontrolled, spastic, disordered movements. The cause of primary lateral sclerosis in adults is unknown, being most often without hereditary influence.

Juvenile primary lateral sclerosis occurs as a result of a mutation in the gene called ALS2. Although researchers do not know exactly how this gene causes the disease, it was discovered that the ALS2 gene provides instructions for the synthesis of a protein called alsin, which has a role in the functioning of motor neurons. When gene mutations occur, changes occur in the synthesis instructions, the protein becomes unstable and produces structural and functional changes in neurons. Juvenile primary lateral sclerosis is an autosomal recessive hereditary pathology, which means that both parents must be carriers of the mutated gene (not necessarily sick) for a child to have the manifest disease. The average progression of primary lateral sclerosis can last up to 20 years, with variable effects from patient to patient.

While some patients continue to walk and perform basic movements, others end up needing a wheelchair or other assistive devices. In most cases, adult-onset primary lateral sclerosis does not shorten life expectancy, but it progressively affects the quality of life, as more muscles lose control. Weak muscles favor injuries and injuries. Problems with mastication and swallowing can lead to. Basic daily activities such as dressing can become difficult for the patient, who will require more and more help.

To diagnose primary lateral sclerosis, there is no single standard test. Since this pathology very well imitates the symptoms of another such as multiple sclerosis or amyotrophic lateral sclerosis, the doctor will require multiple tests to rule out these similar diseases. After taking a careful personal and family history, the neurologist will perform a detailed neurological examination. During this exam, he will test reflexes and neurological functions such as coordination of movements, their synchronization and voluntary control. Then, the doctor will recommend the following tests:\r\n.

Some blood tests are performed to rule out infections or other possible causes of muscle weakness. • MRI. An MRI or other craniocerebral and/or spinal imaging tests can detect signs of neuronal degeneration. Also through an MRI test, other abnormalities that may cause the patient's symptoms can be excluded, such as multiple sclerosis or brain or spinal tumors. • Electromyogram.

An EMG test will give the doctor information about the neuromuscular connection. During the test, a needle equipped with an electrode is inserted into several muscles. The test evaluates muscle function both during contraction and at rest. • Nerve conduction tests. These tests use a small amount of electrical current to measure the ability of nerves to send impulses to muscles in different regions of the body.

. Thus the degeneration of motor neurons is determined. • Lumbar puncture. The doctor uses a thin needle, inserted into the spinal canal, to collect small fragments of cerebrospinal fluid. Cerebrospinal fluid is the fluid that surrounds the brain and spinal cord.

It is then analyzed in the laboratory to exclude multiple sclerosis, infections and other pathologies. Establishing the diagnosis of primary lateral sclerosis is a difficult process, sometimes requiring 3-4 years until a final diagnosis. This period of several years will help to differentiate the types of sclerosis. In the case of children suspected of juvenile lateral sclerosis, specific tests can be performed to identify the mutated gene. Unfortunately, there are no treatments to prevent, stop or cure primary lateral sclerosis.

Existing treatments focus on improving symptoms and preserving motor function, as much as possible. Pharmaceutical treatment\r\n. Muscle spasms can be reduced with certain oral medications. Another option is the implantation of a pump-type device, which will release the medicinal substance directly into the cerebrospinal fluid. • Emotional lability.

If the patient has frequent, sudden changes in mood and emotions, the doctor can prescribe antidepressants. Other types of treatment\r\n. Muscle stretching and strengthening exercises, performed together with a specialist, can improve muscle strength, flexibility and range of motion. Speech therapy can also be useful to improve speech and communication. Patients who experience mastication and swallowing difficulties can benefit from some or alternative feeding methods.

Primary lateral sclerosis is a motor neuron pathology in which patients lose their voluntary nervous control of the muscles. It is a rare pathology of unknown cause, which has an impact on the patient's quality of life, which deteriorates over time. VLAD VOICULESCU\n \n \n . .