MYO9A gene related symptoms and diseases
All the information presented here about the MYO9A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MYO9A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Motor polyneuropathy | Very Common - Between 80% and 100% cases |
| Dysphonia | Very Common - Between 80% and 100% cases |
| Poor suck | Very Common - Between 80% and 100% cases |
| Nasal speech | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MYO9A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Stridor
- Toe walking
- Bulbar palsy
- Spinal rigidity
- Weak cry
- Fatigable weakness
- Neck muscle weakness
- Central hypotonia
And 55 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MYO9A gene
Here you will find a list of rare diseases related to the MYO9A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Description
Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke
Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
Search interest in MYO9A
Potential gene panels for MYO9A gene
MYO9A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MYO9A gene.
More info about this panel United States.
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel Spain.
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