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.

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.

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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


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


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