Expert Reviewed By: Dr. Brandon Colby MD
Pes cavus, also known as high arches, is a foot deformity characterized by an abnormally high arch in the foot. While some cases may not cause any issues, others can lead to pain, instability, and difficulty walking. In this article, we will explore the underlying causes of pes cavus, how it can be diagnosed, and the role of genetic testing in understanding and managing this condition.
Understanding Pes Cavus and its Causes
Pes cavus occurs when the arch of the foot is significantly raised, resulting in an uneven distribution of weight across the foot. This can lead to increased pressure on the ball and heel of the foot, causing pain and discomfort. Pes cavus can be caused by a variety of factors, including:
- Neurological disorders, such as Charcot-Marie-Tooth disease, Friedreich's ataxia, and spinal cord injuries
- Genetic factors, as the condition can be inherited
- Other medical conditions, such as muscular dystrophy and cerebral palsy
- Foot trauma or injury
Understanding the underlying cause of pes cavus is crucial for determining the best course of treatment and management.
Diagnosing Pes Cavus
Diagnosis of pes cavus typically involves a thorough physical examination of the foot, as well as a review of the patient's medical and family history. During the examination, the doctor will assess the height of the arch, check for any muscle weakness or imbalance, and evaluate the flexibility and range of motion of the foot and ankle. Imaging tests, such as X-rays or MRIs, may also be used to assess the severity of the deformity and identify any underlying causes.
Genetic Testing for Pes Cavus
As pes cavus can be caused by genetic factors, genetic testing may be helpful in identifying the underlying cause and guiding treatment decisions. Genetic testing can also be beneficial for family members of individuals with pes cavus, as it can help determine their risk of developing the condition.
Identifying Genetic Causes of Pes Cavus
Several genetic mutations have been linked to the development of pes cavus, particularly in cases where the condition is associated with neurological disorders. For example, a study on CAPOS syndrome, a dominantly-inherited neurological disorder, identified a heterozygous missense mutation in the ATP1A3 gene as the cause of the condition. Another study confirmed that the p.R756C mutation in ATP1A3 causes atypical forms of AHC-associated disorders, with a wide range of neurological phenotypes.
In cases of pes cavus caused by Friedreich's ataxia, a neurodegenerative disease, a review of the ocular involvement in the condition explores the potential use of retinal biomarkers. Genetic testing for these mutations can help identify the cause of pes cavus and inform treatment decisions.
Benefits of Genetic Testing for Pes Cavus
Genetic testing for pes cavus can provide several benefits, including:
- Confirming the diagnosis of pes cavus and identifying the underlying cause
- Guiding treatment decisions based on the specific genetic mutation present
- Assessing the risk of developing pes cavus for family members of affected individuals
- Providing information for family planning and prenatal testing
It is essential to discuss the potential benefits and limitations of genetic testing with a healthcare professional before proceeding.
Conclusion
Pes cavus is a complex condition with various potential causes, including genetic factors. Understanding the underlying cause of pes cavus is crucial for determining the best course of treatment and management. Genetic testing can play a vital role in identifying the cause of pes cavus and guiding treatment decisions. If you or a family member is affected by pes cavus, speak with your healthcare provider about the potential benefits of genetic testing.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)