The McLeod neuroacanthocytosis syndrome also referred as McLeod Syndrome is a type of neurological disorder that is found to affect exclusively men’s. This medical condition affects the movement of different body parts. The patient is said to have weird star-shaped red blood cells and such a condition is the part of a group of neurological disorders known as neuroacanthocytoses. The affected person is said to have neurological problems as well as abnormality in their red blood cells. The cause of the particular syndrome is due to the inheritance in an X-linked fashion with mutations in the XK genes. Some of the symptoms include muscle weakness, muscle degeneration as well as involuntary jerking movements in arms and legs. People with this condition may also have reduced sensation and weakness in their arms and legs also referred to as peripheral neuropathy. Some patients may have Involuntary tensing of muscles in the face and throat which can result in grunting and clicking noises. Nearly half of all people suffering with McLeod neuroacanthocytosis syndrome have reported to have seizures. Some of them reported to face behavioral changes like anxiety, depression, inability to take care of oneself, changes in personality etc. most of these changes start occurring right from their mid-adulthood.
The treatment for this disease requires a diagnosis of the disease which can be challenging in nature. Medical professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. Genetic testing is carried out to ensure correct diagnosis. Currently there are no such treatments to treat or prevent the McLeod syndrome whereas the treatment is symptomatic and supportive in nature. There is however s lot of research still going on to find the perfect solution for this neurological disorder that is very rare and has only been witnessed with 150 such cases throughout the world. The research is still going on however to find an efficient treatment for the particular syndrome. Thus only the treatment option available is that the treatment can help the patients in a supportive manner but it cannot fully solve the exact problem.
The treatment for many genetic diseases is still not preventive in nature and thus not much effective. Most of these diseases have supportive treatment so as to provide some relief to the patient from the sufferings caused by the disease. Same is the case applicable with the McLeod neuroacanthocytosis syndrome. The available treatment for the McLeod neuroacanthocytosis syndrome is supportive in nature so as to bring in relief to the sufferings of the patient.
For the people who can be eligible for the supportive treatment of this neurological disorder could be those who have the symptoms as reported for this syndrome which includes the movement disorder, red blood cells abnormality, behavioral symptoms and other disorders. People with such symptoms need to get genetic profiling done so as to rule out the disease, but if the tests are positive then they are supposed to undergo the recommended supportive treatment.
People who do not have any complaints or who do not face any symptoms regarding sever McLeod syndrome are thus not eligible for the medications of the syndrome. They can be instead be given therapies regarding the issues of anxiety that could be a normal stress situation rather than an actual case of McLeod syndrome. Thus, if a proper diagnosis is not done or if the diagnosis does not clearly provides a result stating McLeod syndrome, one should not go for the treatment regarding the particular syndrome.
Since the treatment is supportive in nature, the aim of the treatment is to ease the problems faced by such patients who are suffering from this disease. The medications may have certain side effects like increase in the enzyme creatine Kinase and lactate dehydrogenase can be found in routine blood screening etc. Botulinum toxin injections can cause dry mouth, headache, tiredness etc. Anticonvulsants can cause tremors, nausea, drowsiness etc. In case any patient reports any other complexity after undergoing the treatment the patient is advised to consult the doctor immediately.
Since the treatment is supportive in nature, there is a need to ensure that the patients are under proper consultation with the specialist and are on routine checkup. In case of any issues like tremors, stiffness in muscles, unbearable pain in muscles, the patients are supposed to report the specialist. Since this disease can cause seizure the patient requires a supportive care while travelling and driving.
The treatment being supportive is lifelong supportive therapy and thus can help the patient to ease some of the problems faced by the disease.The treatment recovery time varies from the patient condition to condition and differs from the mode of the treatment opted for the patient. The patient can take regular therapies and medications for fighting the various disorders and symptoms that are a part of the syndrome. On the other hand, with research going on there is a chance of getting some effective solutions for the neurological problem so concerned. The only part is that the patient should be careful in observing the symptoms he or she is going through without neglecting any as well as should find a perfect specialist to help with the problems.
Since only 150 cases have been reported so far across the world defining the exact price for the treatment shall not be a viable option. The supportive treatment includes genetic profiling and testing, medication and therapies which can cost in a range of Rs: 15,000/- to Rs: 1,50,000/-
The medication and therapies available are temporary in nature and the treatment is supportive. The muscular atrophy stabilizes in between three to five years.
There are no such alternatives of the treatment found so far as there is no such perfect treatment of the neurological problem as well as it is hard to be diagnosed since it is a genetic problem that occurs due to the mutations in XK genes. Thus as such there are supportive medications available for the various disorders and therapies along with many anti-convulsants, medications to block dopamine, medications to fight seizures and others. These do not fully treat the disease but they help in order to get relief from different symptoms and muscular disorders and other abnormalities including the red blood cells abnormality. With the advancement in medical science and technolgy it can be hoped that new kind of treatment shall emerge for this disease in near future.