Chief Justice of India DY Chandrachud was recently addressing a national workshop on child protection. He talks about the illness of his two daughters. Their daughters suffer from a rare congenital disease, “nemaline myopathy”.
Due to this disorder, the muscle proteins in the body are affected. Due to this, the flexibility of the muscles begins to decrease, they become weaker and their function begins to deteriorate. In this, the muscles around the jaw and neck are more affected. Therefore, there is also a problem in eating food and breathing.
According to the US National Organization for Rare Diseases, this disease affects one in 50,000 people worldwide.
so today’medical certificate“I’m going to talk about this rare disease, nemaline myopathy. You will also learn 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 problem that affects the muscles necessary for the basic functioning of our body. Because of this, the muscles in many parts of the body become weak. Its symptoms can appear from birth, in childhood, adolescence or adulthood. Which parts of the body can be affected because of this, see the chart:
Threadlike structures form in muscles affected by nemaline myopathy. These structures affect the functioning of these muscles. These structures are also called rods or malignant bodies. When doctors investigate, they look for these malignant bodies in the biopsy to confirm the disorder. This is why it is also called rod body disease or rod body myopathy.
Most people suffer from this disorder due to one or more genetic mutations inherited from their parents. While a spontaneous mutation can 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 represents approximately 50% of cases.
Intermediate congenital nemaline myopathy: Its symptoms are more severe than typical congenital ones. It is responsible for approximately 20% of cases of this disorder.
Severe congenital nemaline myopathy: This condition is known at the time of the child’s birth. Its symptoms are the most serious. This represents approximately 16% of cases.
Nemaline myopathy of childhood: Its symptoms appear between 10 and 20 years of age. This represents more than 10% of cases.
Nemaline myopathy in adults: This condition occurs between the ages of 20 and 50. This represents approximately 4% of cases.
Amish Nemaline Myopathy: This type of unrest only affects the Amish community (an ancient Protestant Christian community). Only a few such cases come to light. However, this often leads to death in childhood.
What causes nemaline myopathy?
This is a disease of the musculoskeletal system of the body. The musculoskeletal system is responsible for the functioning of bones, muscles, joints, ligaments and cartilage.
This disease is usually caused by a genetic mutation. If one or both parents carry this genetic mutation, the risk of developing nemaline myopathy is higher.
What are the symptoms of this disorder?
Due to nemaline myopathy, the muscles become weak. For this reason, 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 symptoms, see in the chart.
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 like a muscle disorder. However, this delay can sometimes 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 disease. Therefore, during its treatment, efforts are mainly made to control the symptoms. Apart from this, it is advisable to do muscle strengthening exercises or undergo physiotherapy. Dr. Gautam Arora says research is underway on some treatments to control genetic mutations, but there is still a lot of work to be done in this area.
Many types of treatments can be offered for this:
If the patient has severe breathing difficulties, tracheotomy or ventilation may be advised. Light exercises may be advised to strengthen the muscles and physical therapy may be advised to maintain muscle strength. to improve speech or nasal voice problems. Stretching techniques can be used to increase muscle movement. If a person is unable to walk, if there is a problem, a stick, crutches or a wheelchair can be given. other health complications, the patient must be admitted to the hospital.
If these problems occur in nemaline myopathy, it is necessary to be admitted to the hospital.
When respiratory assistance is needed to help breathe during sleep. For surgical intervention in cases of scoliosis, i.e. a curvature or narrowing of the spine. When tube feeding is required in the event of a feeding problem.
Can my child’s risk of nemaline myopathy be reduced?
Dr. Gautam Arora says we cannot reduce the risk of this rare disease for our child. It is important that we pay attention to all of our children’s symptoms and signs. For this reason, if even slightly unusual signs of weakness are observed, treatment can be started immediately after consulting a doctor. Starting treatment on time can help control symptoms to some extent.
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