Chief Justice of India DY Chandrachud was recently addressing a national workshop on child protection. There he talked about a rare disease of his two daughters. His daughters have a rare congenital disorder called 'Nemaline Myopathy'.
This disorder affects the body's muscle proteins. Due to this, the muscles begin to lose flexibility and weaken and their function deteriorates. In this, the muscles around the jaw and neck are more affected. Hence, it becomes difficult to eat food and also to breathe.
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 ' we will talk about this rare disorder nemaline myopathy. You will also know that-
- How many types of this disease are there?
- What are the symptoms of nemaline myopathy?
- What is its treatment and what are the preventive measures?
What is nemaline myopathy? It is a health condition that affects the muscles that are essential 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 by this, see the graphic:
Thread-like structures form in muscles affected by nemaline myopathy. These structures affect the function of those muscles. These structures are also called rod or maline bodies. When doctors check, they look for these same maline bodies in biopsies to confirm the disorder. Hence it is also known as rod body disease or rod body myopathy.
Most people have the disorder because of one or more gene mutations inherited from their parents. While spontaneous mutations 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 about 50% of cases
Inter Mediate Congenital Nemaline Myopathy: Its symptoms are more severe than normal congenital ones. It accounts for about 20% of cases of this disorder.
Severe Congenital Nemaline Myopathy: This condition is diagnosed at birth. Its symptoms are the most severe. It accounts for about 16% of cases
Childhood Onset Nemaline Myopathy: 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 ages of 20 and 50 years. It accounts for about 4% of cases
Amish nemaline myopathy: This type of disorder only affects the Amish community (an old Protestant Christian community). Few such cases come to light. However, it often results in death in childhood.
What causes 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.
Usually this disease is caused by genetic mutation. If one or both parents have this gene mutation, the risk of developing nemalinen myopathy is increased.
What are the symptoms of this disorder? Nemaline myopathy causes muscle weakness. This makes it difficult to stand normally. Jaw and neck muscles become so weak that even chewing and swallowing food becomes a problem. What are its other features, 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 with time in nemaline myopathy.
What is the treatment for nemaline myopathy? No specific treatment is yet available for this rare disorder. Therefore, in its treatment, efforts are mainly made to control the symptoms. In addition, it is advised to do muscle strengthening exercises or to undergo physiotherapy. Dr. Gautam Arora says that some treatments are being researched to control the genetic mutation, but there is still a lot of work to be done.
Several types of treatment can be given for this:
- If the patient has severe breathing difficulties, tracheostomy or ventilation may be used
- Mild exercise may be advised to strengthen the muscles
- Massage therapy and physical therapy may be advised to maintain muscle strength
- Speech therapy may be given to improve speech problems or a nasal voice
- Stretching techniques can be used to increase muscle movement
- If someone has difficulty walking, a stick, crutch or wheelchair can be provided
- If severe symptoms appear or other health problems occur, the patient needs to be hospitalized
Hospitalization is necessary if these problems occur in nemaline myopathy
- Require respiratory support to help with breathing while sleeping
- For surgery in case of scoliosis i.e. curvature and compression of the spine
- For the need for tube feeding if swallowing is a problem
Can the risk of nemaline myopathy be reduced for one's child?
Dr Gautam Arora says we cannot reduce the risk of this rare disorder to 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. Early treatment can help control symptoms to some extent.
Image Credit: (Divya-Bhaskar): Images/graphics belong to (Divya-Bhaskar).
