Imaging & Diagnostics

Achondroplasia Clinical Presentation

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Achondroplasia is a genetic disorder that leads to dwarfism. In those with the condition, the legs and arms are short, while the chest is generally of regular length. Those affected have an average adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 feet ) for females. Other features include a prominent forehead and an enlarged head. Intelligence is typically considered normal in people with achondroplasia. The condition affects approximately 1 in 27,500 individuals.

Diagnosis for Achondroplasia

Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This occurs during early development as a new mutation. It is also inherited from the parents in an autosomal dominant way. Those with two affected genes do not survive. Testing if uncertain of diagnosis based on symptoms is often strongly encouraged.

Achondroplasia can be detected before birth through the use of prenatal ultrasound. Moreover, a DNA test can also be performed to identify homozygosity, where two copies of the gene are inherited causing the deadly condition resulting in stillbirths. Clinical features include megalocephaly, short limbs, prominent forehead, thoracolumbar kyphosis and mid-face hypoplasia. Complications such as dental malocclusion, hydrocephalus and replicated otitis media may also develop. The risk of death in infancy may be increased as a result of the probability of compression of the spinal cord with or without upper airway obstruction.

Achondroplasia and Sciatica

Individuals with achondroplasia commonly experience back pain, which may often progress to sciatica symptoms, such as pain and discomfort, tingling and burning sensations in the lower extremities, and numbness, among other consequences. Both children and adults with achondroplasia have hip flexion contractures which have been found to be a contributing factor for sciatica and muscle fatigue reported by individuals with achondroplasia. Individuals with achondroplasia also typically demonstrate a mixed pattern of joint mobility, including joint contracture and joint hypermobility at characteristic joints. 

Achondroplasia Management

There is no known cure for achondroplasia even though the cause of the mutation has been found. Management for the condition might include support groups and growth hormone treatment. Efforts to treat or prevent complications like obesity, hydrocephalus, obstructive sleep apnea, middle ear infections, or spinal stenosis may be required for the management of achondroplasia. Life expectancy of those affected is approximately 10 years less than ordinary. The scope of our information is limited to chiropractic, spinal injuries, and conditions. To discuss the subject matter, please feel free to ask Dr. Jimenez or contact us at 915-850-0900 .

Curated by Dr. Alex Jimenez

Additional Topics: Acute Back Pain

Back pain is one of the most prevalent causes of disability and missed days at work worldwide. Back pain attributes to the second most common reason for doctor office visits, outnumbered only by upper-respiratory infections. Approximately 80 percent of the population will experience back pain at least once throughout their life. The spine is a complex structure made up of bones, joints, ligaments, and muscles, among other soft tissues. Because of this, injuries and/or aggravated conditions, such as herniated discs, can eventually lead to symptoms of back pain. Sports injuries or automobile accident injuries are often the most frequent cause of back pain, however, sometimes the simplest of movements can have painful results. Alternative treatment options, such as chiropractic care, can help ease back pain through spinal adjustments and manual manipulations, ultimately improving pain relief.

EXTRA IMPORTANT TOPIC: Chiropractor Low Back Pain Relief

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Professional Scope of Practice *

The information herein on "Achondroplasia Clinical Presentation" is not intended to replace a one-on-one relationship with a qualified health care professional, licensed physician, and is not medical advice. We encourage you to make your own health care decisions based on your research and partnership with a qualified health care professional.

Our information scope is limited to chiropractic, musculoskeletal, physical medicines, wellness, sensitive health issues, functional medicine articles, topics, and discussions. We provide and present clinical collaboration with specialists from a wide array of disciplines. Each specialist is governed by their professional scope of practice and their jurisdiction of licensure. We use functional health & wellness protocols to treat and support care for the injuries or disorders of the musculoskeletal system.

Our videos, posts, topics, subjects, and insights cover clinical matters, issues, and topics that relate to and support, directly or indirectly, our clinical scope of practice.*

Our office has made a reasonable attempt to provide supportive citations and has identified the relevant research study or studies supporting our posts. We provide copies of supporting research studies available to regulatory boards and the public upon request.

We understand that we cover matters that require an additional explanation of how it may assist in a particular care plan or treatment protocol; therefore, to further discuss the subject matter above, please feel free to ask Dr. Alex Jimenez or contact us at 915-850-0900.

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Blessings

Dr. Alex Jimenez DC, MSACP, CCST, IFMCP*, CIFM*, ATN*

email: coach@elpasofunctionalmedicine.com

Licensed in: Texas & New Mexico*

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