14

How do I know if I have Nemaline Myopathy?

What signs or symptoms may make you suspect you may have Nemaline Myopathy. People who have experience in Nemaline Myopathy offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Nemaline Myopathy?

Nemaline Myopathy is a rare genetic disorder that affects the muscles, causing muscle weakness and potential respiratory problems. It is important to note that I am not a medical professional, but I can provide you with some general information on how to identify potential signs of Nemaline Myopathy.



Symptoms:


The symptoms of Nemaline Myopathy can vary widely from person to person. Some common signs to look out for include:



  • Muscle weakness: Individuals with Nemaline Myopathy often experience muscle weakness, which can affect various muscle groups in the body.

  • Delayed motor development: Infants with Nemaline Myopathy may exhibit delays in reaching motor milestones such as sitting, crawling, or walking.

  • Respiratory difficulties: In severe cases, Nemaline Myopathy can lead to respiratory problems, including difficulty breathing and a weakened cough.

  • Skeletal abnormalities: Some individuals may have skeletal abnormalities, such as a curved spine (scoliosis) or joint contractures.

  • Swallowing difficulties: Nemaline Myopathy can also affect the muscles involved in swallowing, leading to feeding difficulties.



Diagnosis:


If you suspect you or a loved one may have Nemaline Myopathy, it is crucial to consult with a healthcare professional for a proper diagnosis. The diagnostic process may involve:



  • Medical history and physical examination: The doctor will review your medical history, ask about symptoms, and perform a physical examination to assess muscle strength and any potential abnormalities.

  • Genetic testing: A genetic test, usually through a blood sample, can identify specific genetic mutations associated with Nemaline Myopathy.

  • Electromyography (EMG): This test measures the electrical activity of muscles and can help determine if there are abnormalities.

  • Muscle biopsy: A small sample of muscle tissue may be taken and examined under a microscope to look for the presence of nemaline rods, which are characteristic of the condition.



Treatment and Management:


While there is currently no cure for Nemaline Myopathy, treatment focuses on managing symptoms and improving quality of life. This may involve:



  • Physical therapy: A physical therapist can develop a personalized exercise program to help improve muscle strength and mobility.

  • Respiratory support: In severe cases, individuals may require respiratory support, such as assisted ventilation, to aid breathing.

  • Feeding assistance: Occupational therapists and dietitians can provide guidance on feeding techniques and ensure proper nutrition.

  • Regular monitoring: Ongoing medical care and monitoring are essential to address any complications and adjust treatment plans as needed.



Remember, it is crucial to consult with a healthcare professional for an accurate diagnosis and appropriate management if you suspect Nemaline Myopathy. They will be able to provide you with personalized guidance and support based on your specific situation.


Diseasemaps
2 answers
A neurologist and a Genetics Dr would be the best. But weak, fatigue, can't swallow, apnea lung issues would all be signs.

Posted Aug 29, 2017 by Mary Jo Draisma 2100

Do I have Nemaline Myopathy?

Nemaline Myopathy life expectancy

What is the life expectancy of someone with Nemaline Myopathy?

5 answers
Celebrities with Nemaline Myopathy

Celebrities with Nemaline Myopathy

1 answer
Is Nemaline Myopathy hereditary?

Is Nemaline Myopathy hereditary?

3 answers
Is Nemaline Myopathy contagious?

Is Nemaline Myopathy contagious?

3 answers
Natural treatment of Nemaline Myopathy

Is there any natural treatment for Nemaline Myopathy?

1 answer
ICD9 and ICD10 codes of Nemaline Myopathy

ICD10 code of Nemaline Myopathy and ICD9 code

3 answers
Living with Nemaline Myopathy

Living with Nemaline Myopathy. How to live with Nemaline Myopathy?

4 answers
Nemaline Myopathy diet

Nemaline Myopathy diet. Is there a diet which improves the quality of life ...

4 answers

World map of Nemaline Myopathy

Find people with Nemaline Myopathy through the map. Connect with them and share experiences. Join the Nemaline Myopathy community.

Stories of Nemaline Myopathy

NEMALINE MYOPATHY STORIES
Nemaline Myopathy stories
Doctors had never seen a person with this disease before me. They said it was very rare. Eventually I found others online and we are a like family. The nemaline myopathy support group on Facebook is a great resource community.
Nemaline Myopathy stories
ACTA1 ;mild to severe side; NIV/night, Gtube, spinal curvature >70, surgery never done/considered too risky by local surgs Complicated labor-ischemic hypoxia autistic, failure to thrive used to walk 2 to 5 years declining :(
Nemaline Myopathy stories
Tenho 20 anos , descobri a Nemalínica com 3 anos de idade através de biópsia. Atualmente sou cadeiras e faço uso de ventilação mecânica nasal .
Nemaline Myopathy stories
I was born with the condition Nemaline Myopathy & have always had muscle weakness, but I wasn't diagnosed with it until I was 43. I suffer from Ehlers Danlos Syndrome and in my long trail of searching for help and answers for that condition I ended u...

Tell your story and help others

Tell my story

Nemaline Myopathy forum

NEMALINE MYOPATHY FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map