Case report: physical therapy and rehabilitation process of a patient diagnosed with achondroplasia

Abstract

Achondroplasia is an autosomal dominant disorder. But 80% of cases are sporadic. Its incidence is between 1/25000 and 1.5/10000. Significant shortening of the femur and humerus occurs in patients with achondroplasia. This shortness causes the appearance of rhizomelic type of dwarfism. Since the skull of patients with achondroplasia is large during delivery, it may cause difficult delivery. During infancy, hypotonia is more dominant. Many patients also have delayed motor development. Our aim in the study is to present the successful physical therapy and rehabilitation process of our patient diagnosed with achondroplasia for one year and her condition from diagnosis to treatment. Our patient was born via cesarean section on 12.02.2020. The weight of the baby girl was 3500 grams. The mother's height was 162 cm. and the father's height was 174 cm. The mother was 23 years old and the father 27 years old. The same diagnosis was not present in any living relative of the patient. The patient was 1 year old when she applied to our center. She had completed head control and had not yet acquired the skills of rolling over, crawling, and sitting without support. Gross motor skills such as assisted standing and stepping were not developed. In this direction, after a 1-year physical therapy and rehabilitation period applied in 2 sessions a week, the patient gained the ability to walk independently.