Nemaline Myopathy

Outline

Signs and Symptoms - Angel Rivera (Source 1)

Young children and babies lack movement and have a difficult time eating and breathing.
In adults, the most common symptom is a respiratory problem.
In elderly, it is not uncommon to be diagnosed with scoliosis in relations to Nemaline Myopathy.

Causes - Cati (Source 2)

Mutations in genes cause nemaline myopathy, the most common mutations are found in the NEB or ACTA1 gene.

The disease can be inherited by  an autosomal recessive or dominant pattern, but the recessive is most common.

Mechanism - Erin

Skeletal muscle weakness due to nemaline bodies (Source 8)

Not understood very well at this point

A hypothesis is that it may be due to poor regulation of thin filament length in muscle cells

Diagnosis - Cati (Source 2)

The three ways to diagnose are Electromyomyography (EMG), MRI of the Musculoskeletal system and needle biopsy

Prevention - Angel Rivera (Source 2)

Parents both having the autosomal recessive genes should not have kids with one another??

Treatment/Management - Erin (Source 9)

Many Immunosuppressant and immunomodulating therapies have been tested and shown to not be very effective.

Ventilators and feeding tubes may be necessary for severe cases

Evidence points to low-intensity exercise being beneficial

Outcome - Angel Rivera

health of person after the treatment/reduction of symptoms...results of treatments.

History- Cati

When nemaline myopathy was discovered to be a mutation of NEB or ACTA1 gene and who discovered it.

Society & Culture/ Nemaline Community - Angel Rivera

Infants are more likely to show symptoms. (Source 1), the current nemaline article on wikipedia has a good culture area under “Nemaline Community”

Current Research - Erin

Researching mechanisms Nemaline Myopathy’s connection to other health problems, such as heart disease and HIV Instances where the disease could be due to pathogenic mutations

1) https://www.mda.org/disease/inherited-and-endocrine-myopathies/types/nemaline-myopathy

2) http://ghr.nlm.nih.gov/condition/nemaline-myopathy

3) https://www.nlm.nih.gov/medlineplus/muscledisorders.html

4) http://rarediseases.org/rare-diseases/nemaline-myopathy/

5) http://www.sciencedirect.com/science/article/pii/S0887899415300199

6) http://www.sciencedirect.com/science/article/pii/S1071909111000891

7) http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185829/

8) http://www.ncbi.nlm.nih.gov/pubmed/22172418

9) http://www.socialstyrelsen.se/rarediseases/nemalinemyopathy#anchor_7m

Feedback

Nice work on your article draft. I made a few minor fixes - mostly formatting-related. When it comes to references, you should avoid using bare URLs - if you use the Cite tool. One thing though - not everything in the article is clearly connected with a source. Before merging your additions with the mainspace article, please make sure that everything you add is supported by a citation, and that everything can be tied to the appropriate source. Right now, you have some paragraphs that lack any citations, and some that lack a reference at the end. While the source might be present elsewhere in the section, there's no way for the reader to know for certain. And as the article continues to grow as others people add to it, things like that can become more problematic. Ian (Wiki Ed) (talk) 03:52, 10 April 2016 (UTC)[reply]

Also pinging @EKallsen and MecciaC0410: on above feedback. Ian (Wiki Ed) (talk) 04:19, 10 April 2016 (UTC)[reply]