AK9 gene related symptoms and diseases
All the information presented here about the AK9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Table of contents:
Top 5 symptoms and clinical features associated to AK9 gene
Symptoms // Phenotype | % Cases |
---|---|
Scoliosis | Very Common - Between 80% and 100% cases |
Weakness of long finger extensor muscles | Very Common - Between 80% and 100% cases |
Neck flexor weakness | Very Common - Between 80% and 100% cases |
Reduced vital capacity | Very Common - Between 80% and 100% cases |
Thoracic kyphoscoliosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AK9 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Orthopnea
- Weakness of the intrinsic hand muscles
- Ankle weakness
- Shoulder girdle muscle weakness
- Decreased miniature endplate potentials
- Decreased size of nerve terminals
- Triceps weakness
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AK9 gene
Here you will find a list of rare diseases related to the AK9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
- Scoliosis
- Muscle weakness
- Ptosis
- High palate
- Skeletal muscle atrophy
More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
SOURCES: ORPHANET
Search interest in AK9
Potential gene panels for AK9 gene
AK9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AK9 gene.
More info about this panel
United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TUBB8 PEX1 TANGO2 SGCA BAG3 ALS2 WNT1