Treatment of achondroplasia: Can it be cured?

Achondroplasia is a congenital incurable disease and therefore treatment is primarily symptomatic (symptom-based therapy).

Patients with achondroplasia require multidisciplinary care. In children with achondroplasia, weight gain should be monitored prophylactically to prevent the risk of obesity in adulthood.

Comprehensive care includes social, psychological and rehabilitation components.

In case of positive genetic findings, MRI (magnetic resonance imaging) is indicated for a detailed examination of the cervicocranial transition. Narrowing of the foramen magnum or the presence of hydrocephalus requires neurosurgical examination and specialist treatment.

Treatment of respiratory disorders in the form of sleep apnoea may include surgical tonsillectomy or adenectomy.

Orthopaedic problems in achondroplasia often require surgical intervention. In adulthood, some patients also require lumbar laminectomy for excessive spinal stenosis (narrowing).

Surgery can be used to slightly lengthen the limbs in some cases.

However, patients with achondroplasia often also need pharmacological treatment, such as antibiotics for frequent ear infections or anti-inflammatory drugs for joint and back pain.

In some cases, treatment with the growth hormone STH has been used, but its use has been limited.

The treatment also includes preventive physiotherapy (rehabilitation) to eliminate muscle imbalances, improve motor skills, posture and promote the patient's overall fitness, stability and muscle strength.