Friedreich’s ataxia (FA) is a type of muscular dystrophy (MD) that has no cure or medical treatments, but patients have options for managing symptoms.
Learn about MD
What many know as MD is actually an umbrella term for more than 30 diseases that weaken and break down the muscles that control movement. MD is often, but not always, a genetic condition that interferes with the production of the proteins needed to form healthy muscle. MD can be unique for each patient. For example, you may see differences in:
- Age of onset
- Nature and area of muscle weakness
- Speed of progression
- Whether or not it is genetic
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Learn about FA
FA, one severe type of MD, affects 1 person in 50,000. Discovered and named in 1863 by German pathologist Nikolaus Friedreich, FA is a crippling, life-shortening neuromuscular disorder in which the nerve tissue in the spinal cord breaks down. As the disease progresses, the damage to nerve tissue affects the arms, legs, head, and neck.
Not every patient has all of the symptoms for FA. These are the most common ones:
- Ataxia (loss of coordination) in the arms and legs
- Feeling tired or weak
- Impaired vision, loss of hearing, slurred speech
- Scoliosis (curvature of the spine)
- Insulin-dependent diabetes
- Serious heart conditions
As the disease gets worse, patients need to use a cane, walker, or wheelchair. Typically patients are wheelchair bound by their early 20s. Mental capacities are not affected by FA, which may make the loss of muscle function a difficult realization for those affected.
You can learn more about FA in the Consensus Clinical Management Guidelines provided by the Friedreich’s Ataxia Research Alliance (FARA). FARA is an organization dedicated to advancing treatments to cure FA.
Find a care team
Patients with FA can manage their symptoms to improve their quality of life. It’s important that patients have a care plan to ensure that physical, social, and psychological needs are met. A patient’s care team should include specialists such as:
- Speech and language therapist—Patients with FA often experience slurred speech and swallowing problems. A speech and language therapist can teach a patient how to make his or her voice sound clearer and improve swallowing. If necessary, the therapist can also give advice about speaking aid equipment
- Occupational therapist (OT)—Patients with FA require walking aids. An OT teaches patients how to use their mobility devices and how to change their homes to make life easier
- Physiotherapist—This specialist can help patients strengthen their muscles and keep patients from getting stuck in one position
NHS Choices provides the entire list of specialists here, as well as suggestions for other ways to manage symptoms.
Have hope for the future
While FA has no cure yet, clinical studies are being conducted in hopes of bringing patients hope and relief. Ten studies are in the recruitment stage. Click here for a full list of clinical trials for FA. You may even be able to volunteer for a study—check with your healthcare provider to see if one is right for you.
On FARA’s Web site is a list of clinical research centers that work together to advance treatments and clinical care for FA patients. These centers work with pharmaceutical companies, government agencies and other research centers, and the patient community to identify new therapies.
The effects of FA often cause patients to feel alone, but they don’t have to. There are support groups and ambassadors for patients who wish to meet in person with others, as well as online communities on which patients can connect with others. These include Facebook, Twitter, and YouTube, in addition to multiple chat rooms and bulletin boards. The National Ataxia Foundation has collected this information in one place and patients are encouraged to check out their options.
This blog was written to provide helpful tools, information, and hope for the future. Here are a few key points to remember:
- It can help to learn more about MD symptoms and treatment options
- Having a care plan and team can help make sure all of your needs are met
- Support groups can help you connect with other people living with MD
This blog was authored by a HealthEd/SurroundHealth contributor, Gillian Astarita.