Is your or your child's body sluggish? Could it be Nemaline Myopathy?

Do you sometimes feel like your body is very weak, or your little one is doing things a little later than other children, or seems to be lacking in strength? These things can happen for a variety of reasons. However, today we are going to talk about a rare but important condition that is important to be aware of. That is a condition called Nemaline Myopathy .

What is Nemaline Myopathy?

Simply put, Nemaline Myopathy is a condition that affects the muscles that help our bodies move (also known as skeletal muscles ). This causes muscle weakness (myopathy) in various parts of the body. These symptoms can sometimes be present at birth, or during childhood, and very rarely in adulthood. This muscle weakness most often affects:

• To your face
• To the neck
• To the hip area
• To the shoulders
• For the upper arms and legs

There is something else special about this nemaline myopathy. That is, when we examine the muscles (we do a biopsy ), we see thread-like, small stick-like things inside the muscles (this is called nemaline bodies) . The Greek word "nema" also means "thread-like". So that's how this disease got its name. It is also called by other names, you may have heard of it:

• Congenital rod disease
• Nemaline body disease
• Rod myopathy

Most people with nemaline myopathy are born with a genetic mutation inherited from their parents . However, very rarely, the condition can occur without any family history, and can be caused by a random gene mutation.

The important thing is that there is no cure for nemaline myopathy. However, there are various treatments that can help control symptoms and make life easier. People with the most common type of nemaline myopathy can often lead normal, active lives.

Are there different types of Nemaline Myopathy?

Yes, there are six main types of nemaline myopathy. The time of onset of symptoms and the severity of the disease vary depending on the type. 1. Typical congenital nemaline myopathy: This is the most common type . About half of all nemaline myopathy patients belong to this type. This is a condition that is present at birth. 2. Intermediate congenital nemaline myopathy:In this type, symptoms are less severe than in the severe type, but more severe than in the normal type. About 20% of patients have this type. 3. Severe congenital (neonatal) nemaline myopathy : This is a severe condition that is present at birth . About 16% of patients have this type. 4. Childhood- onset nemaline myopathy: This type appears between the ages of 10 and 20. A little over 10% of patients have this type. 5. Adult-onset nemaline myopathy : This condition occurs between the ages of 20 and 50. About 4% of patients have this type. 6. Amish nemaline myopathy : This is a specific type seen among the Amish community. It is very rare and can often lead to death in childhood.

Who can develop this condition?

Nemaline myopathy can affect anyone, regardless of gender, race, or religion. However, if one or both of your parents carry the gene mutation for the disease, you are at higher risk . People in the Amish community are also at higher risk. It is a very rare disease . Researchers say that the disease occurs in about one in 50,000 live births. However, in the Amish community, it is said that one in 500 people can be affected by this condition.

What are the causes of Nemaline Myopathy?

Nemaline myopathy is a disease of our skeletal and muscular system . It is often caused by changes in genes, called gene mutations . These gene mutations can be inherited from one or both parents.

• Sometimes, this condition can occur if both parents carry the abnormal gene (i.e., it is inherited as an autosomal recessive trait) .
• Rarely, it can develop even if only one parent inherits the abnormal gene (that is, as an autosomal dominant trait ).
• Sometimes, this condition can also occur from a new, random genetic mutation in a sperm or egg.

This is often caused by mutations in the gene Nebulin (NEB) or the gene Actin alpha-1 (ACTA1) . Nebulin and actin are two types of proteins that help our muscles contract. Think of them like parts of a machine. When there is a problem with these parts, the muscles stop working properly.

What are the symptoms of this disease?

The main symptoms of nemaline myopathy are:

• Decreased muscle tone (Hypotonia) : A feeling of weakness in the body, like a rubber ball.
• Decreased or lost reflexes: Decreased ability to move the leg when the doctor taps the knee with a small hammer.
• Muscle weakness: A feeling of weakness in the body .

If your newborn baby shows these symptoms, you may also see other things like:

• An abnormal swaying gait (gait disorder) .
• Delayed motor skills: Delay in things like sitting, standing, and head control.
• Difficulty speaking and swallowing (dysarthria and dysphagia) .
• The jaw area is positioned further back than normal (retrognathia) .
• Taking on an elongated face shape .
• Abnormal curvature of the upper palate of the mouth .
• Slurred speech (velopharyngeal dysfunction) .
• Weakened breathing during sleep (nocturnal hypoventilation) , which can cause an increase in carbon dioxide levels in the blood (hypercarbia) .
• Difficulty breathing (dyspnea) .

People with this condition may develop other symptoms as they get older :

• Abnormal stiffness of the spine .
• Scoliosis .
• Joint contractures .
• A sunken chest (pectus excavatum) .

How is this disease diagnosed?

First, a doctor will ask you or your child about your symptoms and whether anyone in your family has had similar conditions. Then, they will do a physical exam. If the doctor suspects nemaline myopathy, he or she will order a muscle biopsy . This involves removing a small piece of muscle tissue during surgery and examining it. If you or your child has this condition, you will see the thread-like structures (nemaline bodies) in that piece of muscle. The doctor will also do genetic testing .It can also be recommended. This can confirm the condition of nemaline myopathy.

How is it treated?

As mentioned earlier, there is no specific cure for this. Therefore, treatment is aimed at reducing symptoms and helping to make life easier . Treatment can include:

• Help with breathing difficulties: This may include placing a tracheostomy , connecting to a mechanical ventilation machine, or using a BiPAP machine.
• Low-impact exercise: Maintain muscle strength.
• Massage therapy and physical therapy : Maintain muscle function.
• Speech therapy : Reduce speech difficulties and stuttering.
• Stretching techniques : Increase muscle movement.
• Walking aids: Things like a cane, crutches, knee braces, and a wheelchair.

If symptoms are severe, or if there are other health complications, you may need to be hospitalized . Hospitalization may provide the following treatments:

• Respiratory support: Such as mechanical ventilation to help you breathe during sleep.
• Surgery : Treat joint contractures or scoliosis .
• Enteral nutrition : If you have difficulty swallowing food.

Can this risk be reduced?

Honestly, there is no way to prevent yourself or your child from developing nemaline myopathy. However, it is very important to be aware of the symptoms, seek medical advice early, and start treatment if necessary .

What kind of future can someone with this condition expect?

This really varies a lot depending on the type of disease .

• Typical congenital nemaline myopathy: Muscle weakness usually remains the same over time. However, as you get older, the weakness may increase slightly with growth.
• Severe congenital (neonatal) nemaline myopathy: This can cause complications . For example:
• Many joints are stuck in a bent or extended position (Arthrogryposis multiplex congenita) .
• Inhalation of food or liquidsAspiration pneumonia .
• Fractures.
• Heart muscle disease (Cardiomyopathy) .
• Respiratory failure .
• Intermediate congenital nemaline myopathy: Many people may need breathing assistance and a wheelchair.
• Childhood-onset nemaline myopathy: This can cause foot drop, which is the inability to bend the foot above the ankle. It can also lead to loss of ankle and lower leg muscle movement.
• Adult-onset nemaline myopathy : This can also cause complications :
• Difficulty breathing.
• Difficulty holding the head upright due to weak neck muscles.
• Heart disease complications.
• Gradually increasing muscle weakness.
• Amish nemaline myopathy : Complications in this condition include progressive muscle weakness, respiratory failure, and muscle atrophy .

So, as for the future, it depends on the type of disease and the severity of the symptoms . Someone with the mildest form of the disease (typical congenital nemaline myopathy) may be able to walk without any support. However, people with the most severe form (Amish nemaline myopathy) often live for about two years.

But don't worry. Although there is no cure, with proper treatment, many people with nemaline myopathy can live a long life . Depending on the type of disease, life expectancy can range from a few months to a lifetime.

How do you take care of yourself or your child if they suffer from this condition?

You can help reduce the complications of this condition by doing the following:

• Check your heart function regularly.
• Seek medical advice and treatment immediately if you develop a lower respiratory tract infection (e.g. bronchitis , chest congestion, pneumonia ).

If you are a carrier of the gene for this disease and you are also hoping to have a child, it is a good idea to meet with a genetic counselor for advice .

Remember as a summary

Nemaline Myopathy (NM) is a rare condition that affects skeletal muscles. The main symptoms are decreased muscle tone and muscle weakness. There are several types of this disease, each with a different onset and severity of symptoms. Although there is no specific cure, there are treatments to reduce symptoms.. Most people with the most common type (typical congenital nemaline myopathy) can live independent lives with proper treatment. The prognosis for other types varies depending on the severity of the symptoms. Therefore, it is very important to follow medical advice and get proper care . Nemaline Myopathy, Muscle Weakness, Genetic Diseases, Pediatric Diseases, Neuromuscular Diseases, Breathing Problems, Muscle Biopsy