Chief Justice of India DY Chandrachud was recently addressing a national workshop on child protection. There he talked about a rare illness of his two daughters. His daughters have a rare congenital disorder 'Nemaline Myopathy'.
Due to this disorder the muscle proteins of the body are affected. Due to this, the muscles begin to lose their elasticity and become weak and their function begins to deteriorate. In this, the muscles around the jaw and neck are most affected. Therefore, there is difficulty in eating food and even breathing.
According to the American National Organization for Rare Disorders, this disease affects one in 50 thousand people in the world.
So, today' health water ' In this we will talk about this rare disorder nemaline myopathy. You will also know that-
What is nemaline myopathy? It is a health condition that affects the muscles necessary for the basic functioning of our body. Due to which the muscles of many parts of the body become weak. Its symptoms may appear at birth, childhood, adolescence or adulthood. Which parts of the body can be affected due to this, see the graphic:
Thread-like structures form in the muscles affected by nemaline myopathy. These structures affect the functioning of the muscles. These formations are also called rods or maline bodies. When doctors test, they look for these myelin bodies in biopsies to confirm the disorder. Therefore it is also known as rod body disease or rod body myopathy.
Most people have this disorder due to one or more gene mutations they inherit from their parents. Whereas spontaneous mutation can occur in some people.
How many types of this disorder are there?
There are six main types of nemaline myopathy.
Typical congenital nemaline myopathy: This is the most common type of nemaline myopathy. This disorder accounts for about 50% of cases.
Intermediate congenital nemaline myopathy: Their symptoms are more severe than normal congenital ones. It is responsible for about 20% of the cases of this disorder.
Severe congenital nemaline myopathy: This condition is detected at birth. Its symptoms are the most severe. It accounts for about 16% of cases
Childhood Onset Nemaline Myopathy: Symptoms develop between 10 and 20 years of age. It accounts for more than 10% of cases
Adult Onset Nemaline Myopathy: This condition occurs between 20 and 50 years of age. It accounts for about 4% of cases
Amish Nemaline Myopathy: This type of disorder affects only the Amish community (Junno Protestant Christian community). Only a few such stories come to light. However, it often results in death in childhood.
What is the cause of nemaline myopathy? It is a disease of the musculoskeletal system of the body. The musculoskeletal system is responsible for the functioning of the body's bones, muscles, joints, ligaments and cartilage.
Generally this disease is caused by genetic mutation. If one or both parents have this gene mutation, the risk of developing nemaline myopathy is higher.
What are the symptoms of this disorder? Due to nemaline myopathy the muscles become weak. Due to which it becomes difficult to stand normally. The jaw and neck muscles become so weak that even chewing and swallowing food becomes problematic. What are its other characteristics, see in the graphic.
Why is there such a delay in the diagnosis of nemaline myopathy? The biggest challenge in diagnosing this disorder is that it is a rare disease. Therefore, doctors often do not pay attention to this disease. They consider it as a muscular disorder. However, sometimes this delay can be costly as the severity of symptoms increases over time in nemaline myopathy.
What is the treatment for nemaline myopathy? There is no specific treatment available yet for this rare disorder. Therefore, in its treatment, efforts are mainly made to control the symptoms. Apart from this, it is advisable to do exercises or take physiotherapy to strengthen the muscles. Dr. Gautam Arora says that research is going on on some treatments to control genetic mutations, but a lot of work is still left on this.
Several types of treatments can be given for this:
If these problems occur in nemaline myopathy, hospitalization is necessary.
Can I reduce my child's risk of nemaline myopathy?
Dr. Gautam Arora says that we cannot reduce the risk of this rare disorder for our children. It is important that we pay attention to all the symptoms and signs in our children. Therefore, if even the slightest abnormal pattern of weakness is observed, treatment can be started immediately after consulting a doctor. Starting treatment on time can help control the symptoms to some extent.
Graphics Source: NavJivanIndia | VaskarAssets
