ATP2A1-AS1 gene related symptoms and diseases
All the information presented here about the ATP2A1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP2A1-AS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
| Flexion contracture | Very Common - Between 80% and 100% cases |
| Fever | Very Common - Between 80% and 100% cases |
| Myopathy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATP2A1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Difficulty walking
- Myalgia
- Muscle cramps
- Muscle stiffness
- Paraparesis
- Spastic paraparesis
- Myotonia
- Myoglobinuria
Rare diseases associated to ATP2A1-AS1 gene
Here you will find a list of rare diseases related to the ATP2A1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRODY MYOPATHY
Description
Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).
Most common symptoms of BRODY MYOPATHY
- Pain
- Spasticity
- Flexion contracture
- Fever
- Myopathy
More info about BRODY MYOPATHY
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