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An estimated 65% of scoliosis cases are idiopathic (cause unknown), about 15% are congenital, and about 10% are secondary to a neuromuscular disease. [28] About 38% of variance in scoliosis risk is due to genetic factors, and 62% is due to the environment. [29]
In a study done in 2015, evidence was found for a sex-linked genetic cause of AIS; by performing a genomewide association study on more than 3,000 "idiopathic scoliosis" patients, the authors found that SNPs in the 20p11.2 locus (specifically those located in the PAX1 gene) were associated with a higher chance of developing adolescent scoliosis ...
Hemivertebrae are wedge-shaped vertebrae and therefore can cause an angle in the spine (such as kyphosis, scoliosis, and lordosis). Among the congenital vertebral anomalies, hemivertebrae are the most likely to cause neurologic problems. [5] The most common location is the midthoracic vertebrae, especially the eighth (T8). [6]
Scoliosis is a common spinal disease in which the spine has a curvature usually in the shape of the letter "C" or "S". This is most common in girls, but there is no specific cause for scoliosis. [5] Only a few symptoms occur for one with this disease, which include feeling tired in the spinal region or backaches.
Camptodactyly, tall stature, and hearing loss syndrome, also known as CATSHL syndrome, [1] is a rare genetic disorder which consists of camptodactyly, tall height, scoliosis, and hearing loss. Occasionally, developmental delay and intellectual disabilities are reported.
Many individuals with Friedreich's ataxia develop scoliosis, diabetes, and hypertrophic cardiomyopathy, a serious heart condition that is a leading cause of mortality in patients. Friedreich's ataxia is caused by mutations in the FXN gene, which result in reduced production of frataxin , a protein essential for mitochondrial function ...
Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy. Patients can also have high arched feet, hammer toes, foot drop, foot deformities, and scoliosis. These symptoms are a result of severe muscular weakness and atrophy.
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6-18 months of age and almost exclusively in girls. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]
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