Achondroplasia is a congenital skeletal dysplasia affecting approximately 1 in every 25,000 births, resulting in disproportionate short stature
Achondroplasia is the most commonly reported form of dwarfism
It predominantly affects the long bones of the body resulting in Rhizomelic dwarfism.
Adeno tonsillar hypertrophy which when combined predisposes the individual to upper airway obstruction which has been mutated.
Children with achondroplasia have normal sitting height (trunk length), a large head and shortened long bones, particularly the humerus and femur. Average adult heights are approximately 130cm (males) and 126cm (females). Intelligence is generally normal, and all children will be expected to participate in normal education pathways
Some signals, like the signals from FGFR3 receptors (fibroblast growth factor receptor 3), tell the bones to slow down growth. Others, like the signals from NPRB receptors (natriuretic peptide receptor B), block those signals and allow bones to grow.
FGFR3 receptors are usually only “turned on” when the body needs to stop changing cartilage into bone.
In achondroplasia, a change in the structure of the FGFR3 gene causes the body to continuously send out signals to slow bone growth. Because FGFR3 receptors are always “turned on,” the signals to slow bone growth are stronger than the signals that tell bones to grow (which come from the NPRB receptors).
As a result, the chondrocytes have trouble lining up to form new bone, impairing bone growth.
What musculoskeletal and medical issues need to be considered when treating a child with achondroplasia:
Abnormal hand appearance with persistent space between the long and ring fingers
Bowed legs
Decreased muscle tone
The disproportionately large head-to-body size difference
Prominent forehead (frontal bossing)
Shortened arms and legs (especially the upper arm and thigh)
Short stature (significantly below the average height for a person of the same age and sex)
Spinal stenosis
Spine curvatures called kyphosis and lordosis.
Associated co-morbidities
Clubbed feet
Hydrocephalus
Otitis media may lead to conductive hearing loss
Adenotonsillar hypertrophy which when combined predisposes the individual to upper airway obstruction
Gross motor development
Babies with achondroplasia are likely to have a delay in gross motor skill acquisition compared to other children. Balancing a large head on a small hypermobile neck requires extra back and neck extensor strength, often resulting in a delay in obtaining head control. Most babies with achondroplasia are also hypotonic, so it takes even longer to gain strength and control.
Fine motor development
However, babies and toddlers with achondroplasia often have difficulties in grasping large objects due to their typically short, stumpy fingers. Limited elbow extension and supination, combined with hyper-mobile wrist and finger joints can also create difficulties with some fine motor skills.
Communication skills Babies and toddlers with achondroplasia may have a speech delay and difficulties with their expressive communication. There are many possible causes for this delay, including hypotonia, hearing problems and restricted floor play and handling (for back care).
Can Physical Therapy be of help?
There is no physical therapy management directly for the condition. But, physical therapy will most likely be indicated for an individual with achondroplasia at some point within their lifespan.
Children with achondroplasia often benefit from comprehensive rehabilitation services, including physical and occupational therapy, to cope with physical challenges
Physical and occupational therapists also help people with achondroplasia to recover from bone or spinal surgery.
Physical therapists can help infants with achondroplasia meet developmental milestones, such as sitting up and standing. We also offer exercises to help children with achondroplasia move more efficiently and recover from surgical procedures.
Physical therapy is also commonly used to provide nonsurgical treatment of spinal curvature, such as kyphosis. Our therapists may offer advice to reduce the risk of developing kyphosis, such as preventing infants from sitting up too early while the head is still large in proportion to the back.
The therapist may also recommend using a brace to prevent kyphosis from worsening.
The dysplastic nature of this population's skeletal system makes them predisposed to a number of degenerative disorders for which physical therapy management can be of use. Individuals with achondroplasia may be referred to physical therapy with osteoarthritis and degenerative joint disease. Physical therapy may be involved before surgery as a conservative treatment to help reduce pain, strengthen the patient's musculature, and maybe eliminate the need for surgery altogether. Post-operatively physical therapy can be used to rehabilitate patients back to their pre-morbid status.
Another important role that physical therapy can play in the role of the lives of persons with achondroplasia is in prevention. Physical therapy can help to prevent the "wear and tear" on individuals with achondroplasia by teaching them compensatory motions, energy-saving methods, and more efficient ways of performing their daily tasks. Physical therapy can also help these individuals and their families to make modifications around the home to make their daily tasks easier and perhaps decrease their risk of some of the degenerative changes so commonly found in this population.
Once the child has sufficient head control, aquatic physiotherapy may be commenced provide another environment for strengthening and promoting motor skills. Supported sitting and standing can be trained in neck deep water if spinal posture is appropriately maintained. We encourage age-appropriate play and language. Achondroplasia child often looks much smaller and younger than they really are. Families need to be reminded not to ‘baby’ their child, but provide age-appropriate activities for them. We also provide advice on how to play and communicate with the child.
All children with achondroplasia have spinal canal stenosis. Our role also includes implementing early preventative strategies such as appropriate seating, handling and play activities and to reduce the likelihood of the spinal canal stenosis becoming symptomatic.
As Physical therapist, we also assist families in providing opportunities to maximize their child’s developmental potential. Following the first few years, preparing parents, families, day-care centres and preschools to have an understanding of the condition and full access to facilities and equipment for the achondroplasia child, becomes the primary focus of our therapy.
Occupational therapists and speech therapists too play an important role in the multidisciplinary team and offer your child assistive devices that help to keep objects within reach and assist with complications, such as hearing loss.
At Valley Healing Hands, we provide the best Physical, Occupational and Speech therapy services for Achondroplasia. We have highly skilled therapists who will identify your requirements, plan a personalized regime and work tirelessly towards meeting the goal with you. Our patients are completely satisfied with our services. You may learn about what they have to say about is here and get connected to us here. Our patients love us, you too will!!!
Support groups for achondroplasia and other forms of dwarfism:
www.lpaonline.org/mc/page.do
www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002544/
www.nemours.org/service/medical/orthopedics/dysplasia/achondroplasia/characteristic.html
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