FRIEDREICH ATAXIA SYNDROME

SYMPTOMS

Usually, symptoms begin between the ages of 5 and 15 years, although sometimes they start in adulthood. After age 25, approximately 15 percent of individuals with Friedreich ataxia have developed symptoms. The symptoms of Friedreich ataxia syndrome include:

• Difficulty walking and poor balance
• Slowness and slurring of speech
• Muscle spasticity
• Loss of sensations in the arms and legs
• Hearing and vision loss
• Heart palpitations and shortness of breath
• Involuntary eye movements
• Foot deformities

Most people with this disorder develop increased muscle spasticity as muscle weakening progresses. Scoliosis often develops in up to two-thirds of people with Friedreichs ataxia and requires surgical intervention for treatment. Due to difficulties of controlling the muscles of the tongue and throat, most affected people often experience trouble swallowing.

Many people with this disorder develop some type of heart disease as well. Around 75% of individuals with Friedreich’s ataxia have heart abnormalities. Hypertrophic cardiomyopathy, a thickening of the cardiac muscle, is the most popular cause. Cardiovascular disease symptoms include heart palpitations, pain in the abdomen, and shortness of breath. In most cases, Friedreich’s ataxia can lead to diabetes.

DIAGNOSIS

A careful clinical evaluation, including medical history and a thorough physical examination, is required for the diagnosis of Friedreich ataxia, especially looking for balance difficulties, lack of joint sensation, absence of reflexes, and signs of neurological problems. A definitive diagnosis is now given by genetic testing. Other tests that can assist in the disorder’s diagnosis or management include:

• Electromyogram (EMG): measures the electrical activity of muscle cells
• Nerve conduction studies: measure the speed with which nerves transmit impulses
• Electrocardiogram (EKG or ECG): shows the electrical activity of the heart
• Echocardiogram: records the position and motion of the heart muscle
• Blood tests: measures glucose levels 
• Magnetic Resonance Imaging (MRI) and computed tomography (CT) scans: provides brain and spinal cord images to help rule out other neurological conditions

TREATMENT

It is not possible to cure Friedreich’s ataxia. Instead, the doctor will treat or manage the underlying problems and symptoms. Physical therapy can help you perform as well as speech therapy. To help you get about, you might also need walking aids. When you develop a curved spine or issues with your feet, braces and other orthopedic devices or surgery can be needed. To treat heart disease and diabetes, medications may be used.

There is also no means Friedreich’s ataxia can be avoided since the disorder is hereditary. If you have the disease and expect to have children, genetic therapy and screening are recommended.