Friedreich's ataxia, sometimes called spinocerebellar degeneration, is a genetically inherited disease that affects an individual's ability to walk. The rare condition also causes speech impairment and sensation loss in the legs and arms. Over time, the disease damages portions of the spinal cord and brain, and it can also affect the heart. About one in every forty thousand individuals will be born with Friedreich's ataxia. The condition doesn't have a cure, but it does have multiple available treatments to help deal with symptoms.
Diagnosis typically occurs between ages ten and fifteen, though some cases have been diagnosed as early as two years old, and other patients haven't been diagnosed until they reach their fifties. About seventy-five percent of individuals with Friedreich's ataxia have a comorbid heart condition.
Friedreich's ataxia leads to speech impairment, specifically dysarthria. This condition affects an individual's muscular control of the muscles necessary for speech, which results in altered intelligibility, clarity of speech, and quality of voice. Speech therapy can be used to help Friedreich's ataxia patients maintain their ability to communicate for longer. An individual's motor speech occurs through the action of the cerebellum, the basal ganglia, the sensorimotor cortex, and the Broca's area. To speak clearly, individuals have to use more than a hundred muscles.
In pharmaceutical studies, there were no behavioral treatments to help with dysarthria on a systemic level. But further studies show a patient can receive individually-tailored treatment after a comprehensive assessment. The programs will be different for every patient depending on their speech needs. They might address clarity of articulation, placement of stress on syllables, rate of speech, and respiratory support. The progression of Friedreich's ataxia is different for every patient, so individual programs are necessary to address the different muscles affected.
Physical therapy programs are one of the core components of managing the symptom progression of Friedreich's ataxia. Studies have shown physical therapy programs generally provide positive results for patients because they improve overall physical fitness. A physical therapist will create a treatment program that will help prolong the patient's motor function for a longer period. Treatment also focuses on making sure the patient has the highest possible quality of life even as the disease progresses. Another part of the goal is to minimize pain and deformity.
Before beginning treatment, each patient will undergo a thorough evaluation with their physical therapist. This evaluation includes an understanding of the condition, the patient's physical function, balance, posture, spinal alignment, range of motion, muscle flexibility, strength, mobility, coordination, endurance, gait, and cardiovascular activity response. In addition to creating a plan for ongoing physical therapy sessions, the physical therapist will likely create an individualized exercise program to do at home. This plan will be revised about once annually on average.
Use Of Walking Aids
The use of walking aids can be very beneficial for Friedreich's ataxia patients, particularly as the symptoms progress. Many patients will eventually transition to using a wheelchair full-time. However, using walking aids before making the transition can help preserve muscle tone and strength for longer. Walking aids might include actual walkers, which an individual can use to support themselves as they move from place to place. The condition interferes with coordination and balance, so having a support device is helpful. Similarly, specially fitted crutches might be helpful.
Some patients might benefit from leg braces or other orthotic devices, though the efficacy will vary from case to case. Some individuals might also use multiple different mobility aids and choose the one that's best for them depending on their energy levels, the amount of walking they need to do, and where they're going. An occupational therapist can help patients get used to mobility aids and make sure they're being used correctly. Occupational therapists can also help make the patient's home environment more accessible for their condition.
Friedreich's ataxia can't be cured through surgery, and the progression of the disease will continue regardless of whether a patient has surgery or not. Because of this, it will vary widely from case to case whether surgery is a viable option. Patients will have to discuss the pros and cons with their doctor. Some individuals with Friedreich's ataxia will develop scoliosis. There are also foot deformities that might be corrected through surgery. If the muscles that control speech become impaired, surgery might be necessary to help mitigate difficulty swallowing.
In addition, since seventy-five percent of Friedreich's ataxia patients have some form of heart involvement, surgery may be necessary to manage a heart condition. One study showed more than sixty percent of Friedreich's ataxia patients had scoliosis. Patients who opted for corrective surgery had high success rates afterward, and the correction was maintained following the surgery. Some foot deformities that might be corrected through surgical means include club foot, high arch, and pes cavus. These deformities can affect an individual's mobility or cause pain, rendering surgery a viable intervention.
There aren't any medications that can specifically halt the progression of Friedreich's ataxia, and it's also not clear whether the use of medication can significantly slow the progression. However, a variety of different medications might be used to manage symptoms. The most common medications are ones for heart conditions. Patients with Friedreich's ataxia often have cardiovascular issues that cause fatal complications. To stabilize arrhythmic heartbeats and decrease stress on the heart, patients might be prescribed medications including diuretics, ACE inhibitors, and beta-blockers.
Researchers also believe oxidative stress causes damage that contributes to Friedreich's ataxia's progression. Therefore, individuals with Friedreich's ataxia might benefit from antioxidants including coenzyme Q10, idebenone, and vitamin E. These are all able to absorb free radicals, which are the components that cause oxidative stress. With that said, more studies need to be done to determine how much benefit they have for patients with Friedreich's ataxia.