Typical congenital nemaline myopathy
Alternate names
Typical nemaline myopathy
Definition
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Epidemiology
The annual incidence of NM has been estimated at 1/50,000 live births and the typical form to represent about 50% of all cases.
Cause
Typical NM is caused by mutations of the ACTA1 (1q42.13), NEB (2q22) or TPM2 (9p13) genes.
Inheritance
The disease transmission can be autosomal recessive or dominant.
Onset
Disease onset is in the neonatal period.
Signs and symptoms
- Patients have a long face, a high-arched palate and a tented upper lip.
- Skeletal anomalies may include kyphoscoliosis, pectus carinatum and pes cavus.
- In the first year of life, hypotonia and facial weakness are present and often contribute to failure to thrive and delayed motor development.
- Anti-gravity movements are present and respiratory muscle involvement is frequent.
- Nocturnal hypoxia and hypercarbia and lower respiratory tract infections are common manifestations.
- Joint hypermobility can be observed.
- In a minority of children weakness is more distal.
- Progression is very slow or absent and most patients are able to live an independent active life.
Diagnosis
Treatment
NIH genetic and rare disease info
Typical congenital nemaline myopathy is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - Typical congenital nemaline myopathy
|
Resources
| Additional resources | ||
|---|---|---|
|
Typical congenital nemaline myopathy
|
 | This Typical congenital nemaline myopathy article is a stub. You can help WikiMD by expanding the page. |
<html><link rel="canonical" href="https://wikimd.com/wiki/Typical+congenital+nemaline+myopathy"> <meta name=”viewport” content=”width=device-width, initial-scale=1″> </html>
Sponsored Health Resource
W8MD Weight Loss, Sleep & MedSpa
Looking for physician-supervised weight loss, semaglutide, tirzepatide, or GLP-1 receptor agonist options? W8MD helps eligible patients in New York City, Brooklyn, New Jersey, Connecticut, Pennsylvania, Delaware, and greater Philadelphia with medical weight loss, sleep medicine, and long-term maintenance support.
GLP-1 specials: Affordable GLP-1 injections NYC and Philadelphia starting from $29.99/week and up for semaglutide with insurance accepted for qualifying visits, and $45/week and up for tirzepatide with insurance accepted for qualifying visits. Self-pay options start from $59.99/week and up for semaglutide and $69.99/week and up for tirzepatide.
- Medical weight loss NYC
- Affordable GLP-1 injections NYC
- Budget GLP-1 weight loss shots Philadelphia
- New Jersey medical weight loss
- NYC medical weight loss blog
- Philadelphia weight loss blog
- Sleep medicine and sleep apnea services
- W8MD MedSpa and wellness
Book a W8MD appointment · View GLP-1 specials
Paid promotional message. Eligibility, pricing, insurance coverage, medication availability, and results vary. Medical evaluation required.
Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Translate page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
