Progeria

Diagnosis

Healthcare providers may suspect progeria based on visible symptoms. A genetic test for changes in the LMNA gene can confirm the diagnosis.

A thorough physical exam of your child typically includes:

• Measuring height and weight and plotting on a growth curve chart.

• Testing hearing and vision.

• Measuring vital signs, including blood pressure.

• Observing visible symptoms of progeria.

As progeria is very rare, your healthcare provider may gather additional information before planning care. Asking questions during your child’s exam is encouraged.

Treatment

There is no cure for progeria, but regular monitoring and supportive therapies can help manage the condition.

Monitoring and evaluations may include:

• Tracking weight and height on growth charts.

• Heart evaluations with electrocardiograms and echocardiograms.

• Imaging tests such as X-ray and MRI.

• Routine dental, vision, and hearing exams.

Therapies and treatments may include:

• Lonafarnib (Zokinvy), an oral medicine that prevents buildup of faulty proteins in cells, slowing symptom progression and potentially extending life.

• Low-dose aspirin to reduce the risk of heart attacks and strokes.

• Other medicines to manage complications, which may include dietary therapy, statins, blood thinners, or medicines for headaches and other symptoms.

• Physical and occupational therapy to address joint stiffness, hip problems, and daily activity management.

• Nutrition support with a balanced diet and high-calorie supplements if needed.

• Hearing aids for low-frequency hearing loss when required.

• Eye and vision care to prevent dry eyes and damage due to incomplete eyelid closure.

• Dental care with a pediatric dentist experienced in progeria.

Future treatment and research focus on:

• Understanding genes and disease progression to identify new therapies.

• Preventing heart and blood vessel complications.

• Testing new medicines for progeria management.