Learn about achondroplasia, a genetic disorder that affects bone growth and causes short-limb dwarfism. Discover the symptoms, causes, and management of achondroplasia at Arunalaya Advanced Physiotherapy and Rehabilitation in Patel Nagar, Delhi. Explore the comprehensive care provided to support individuals with achondroplasia and enhance their quality of life.
Introduction:Achondroplasia is a genetic disorder characterized by impaired bone development, leading to short-limb dwarfism. At Arunalaya Advanced Physiotherapy and Rehabilitation in Patel Nagar, Delhi, we specialize in providing comprehensive care and management for individuals with achondroplasia. In this blog, we will discuss the symptoms, causes, diagnosis, and effective management strategies available at Arunalaya to support individuals with achondroplasia.
Understanding Achondroplasia:During fetal development, cartilage tissue in the arms and legs fails to convert into bone, resulting in achondroplasia. This genetic disorder primarily affects bone growth in the arms and legs, leading to short-limb dwarfism. It is the most common form of skeletal dysplasia, a term used to describe conditions that affect bone and cartilage growth.
Is Achondroplasia Hereditary?While most cases of achondroplasia are not inherited and occur due to new gene alterations (de novo mutations), it can be passed down from one parent to the child. When both parents have achondroplasia, there is a 25% chance of the child being born with homozygous achondroplasia, which can result in stillbirth or death shortly after birth.
Symptoms and Long-Term Effects:The common symptoms of achondroplasia include shortened bones in the thighs and upper arms, short hands and feet, large separation between the third and fourth fingers, limited height (maximum around 4 feet), a larger head, prominent forehead, flat nose, and delayed development in infants. Individuals with achondroplasia may experience long-term effects such as back and leg pain, breathing problems, obesity, recurring ear infections, curved spine, bowed legs, excess fluid on the brain, and obstructive sleep apnea.
Diagnosis and Tests:Achondroplasia can be detected before birth through ultrasounds if the baby's limbs appear shorter than average and the head is larger. However, most cases are confirmed after birth through physical examinations, genetic testing (FGFR3 gene), MRI to identify muscle weakness or spinal cord compression, and X-rays.
Management and Treatment at Arunalaya Advanced Physiotherapy and Rehabilitation:Currently, there is no cure for achondroplasia, but effective management of symptoms is essential. At Arunalaya, our expert team focuses on monitoring height, weight, and head circumference in infants to track growth progress. Management strategies for achondroplasia include weight management and healthy eating habits to prevent obesity, surgical interventions to alleviate complications like fluid pressure on the brain or craniocervical junction compression, growth hormones, continuous positive airway pressure (CPAP) for apnea, ear tubes or antibiotics for ear infections, support for socialization, and ongoing research on potential medications to increase height.
Conclusion:At Arunalaya Advanced Physiotherapy and Rehabilitation in Patel Nagar, Delhi, we provide comprehensive care and management for individuals with achondroplasia. Our expert team focuses on supporting individuals with this genetic disorder through monitoring, symptom management, surgical interventions if necessary, and ongoing research on potential treatments. Trust Arunalaya to provide personalized care and enhance the quality of life for individuals with achondroplasia. Schedule an appointment with Arunalaya Advanced Physiotherapy and Rehabilitation today.