Achondroplasia Clinical Presentation

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