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How is Nemaline Myopathy diagnosed?

See how Nemaline Myopathy is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Nemaline Myopathy

Nemaline Myopathy diagnosis
4 answers
Nemaline Myopathy is diagnosed by a muscle biopsy and also genetic tests, as it is usually hereditary.

Posted Feb 24, 2017 by Star 1270
It is diagnosed by muscle biopsy and/or genetic testing. There are more than 10 genes related to the onset of this disorder. A neurologist or neuromuscular specialist would schedule the testing. Follow-up with specialists in pulmonary, cardiology, GI, and orthopedics should occur soon. Other specialists will likely be needed down the road.

Posted Aug 28, 2017 by Stacy 500
Diagnosed with Muscle Biopsy and some now with blood tests due to research! Dr's needed are Genetics, Neurology, G-I, Pulmonologist, Cardiologist, ENT, Orthopaedics. Others along the way if things arise. May need endocrinologist or developmental pediatrician.

Posted Aug 29, 2017 by Mary Jo Draisma 2100
Translated from portuguese Improve translation
atraves de biopsia muscular - Dr. Lineu Werneck - Curitiba/PR

Posted May 29, 2017 by Danielle 1150

Nemaline Myopathy diagnosis

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
ICD9 and ICD10 codes of Nemaline Myopathy

ICD10 code of Nemaline Myopathy and ICD9 code

3 answers
Natural treatment of Nemaline Myopathy

Is there any natural treatment for Nemaline Myopathy?

1 answer
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

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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...

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Nemaline Myopathy forum

NEMALINE MYOPATHY FORUM

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