Health note- Chief Justice Chandrachud's daughters have rare disorder: Difficulty in breathing, difficulty in eating and drinking, know what is Nemaline Myopathy.

Chief Justice of India DY Chandrachud was recently addressing a national workshop on child protection. There he talked about the illness of his two daughters. Their daughters have a rare congenital disorder 'Nemaline Myopathy'.

Due to this disorder the muscle protein of the body is affected. Due to this, the flexibility of the muscles starts decreasing, they become weak and their function starts deteriorating. In this, the muscles around the jaw and neck are more affected. Therefore, there is a problem in eating food and breathing also.

According to the American National Organization for Rare Disorders, this disease affects one in 50 thousand people in the world.

so today 'medical certificate'I will talk about this rare disorder nemaline myopathy. You will also learn that-

What is nemaline myopathy?

It is a health condition that affects the muscles necessary for the basic functioning of our body. Due to this the muscles of many parts of the body become weak. Its symptoms can appear at birth, in 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 those muscles. These structures are also called rods or maline bodies. When doctors investigate, they look for these malignant bodies in the biopsy 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 inherited from their parents. Whereas spontaneous mutation may occur in some people.

How many types of this disorder are there?

There are mainly 6 types of nemaline myopathy.

Typical congenital nemaline myopathy: This is the most common type of nemaline myopathy. This disorder accounts for approximately 50% of cases.

Intermediate congenital nemaline myopathy: Its symptoms are more severe than typical congenital. It is responsible for about 20% of cases of this disorder.

Severe congenital nemaline myopathy: This condition becomes known at the time of child's birth. Its symptoms are the most serious. It accounts for about 16% of cases.

Childhood-onset nemaline myopathy: Its symptoms develop between the ages of 10 and 20. It accounts for more than 10% of cases.

Adult-onset nemaline myopathy: This condition occurs between the age of 20 to 50 years. It accounts for about 4% of cases.

Amish nemaline myopathy: This type of disorder affects only the Amish community (an old Protestant Christian community). Only a few such cases come to light. However, it often results in death in childhood.

What causes nemaline myopathy?

It is a musculoskeletal system disease of the body. The musculoskeletal system is responsible for the functioning of the body's bones, muscles, joints, ligaments and cartilage.

Usually this disease is caused by genetic mutation. If one or both of one's 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 this, it becomes difficult to stand normally. The muscles of the jaw and neck become so weak that even chewing and swallowing food becomes problematic. What are its other symptoms, 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 treat it as a muscular disorder. However, sometimes this delay can prove costly as the severity of symptoms increases with time in nemaline myopathy.

What is the treatment of nemaline myopathy?

There is no exact treatment available yet for this rare disorder. Therefore, in its treatment, mainly efforts are made to control the symptoms. Apart from this, it is advised to do muscle strengthening exercises or take physiotherapy. 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.

Many types of treatments can be given for this:

If these problems occur in nemaline myopathy, it is necessary to be admitted to the hospital.

Can my child's risk of nemaline myopathy be reduced?

Dr. Gautam Arora says that we cannot reduce the risk of this rare disorder for our child. It is important that we pay attention to all the symptoms and signs of our children. Due to this, if even slightly unusual patterns of weakness are seen, treatment can be started immediately after consulting a doctor. Starting treatment on time can help in controlling the symptoms to some extent.

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