ARTICLE

Topic – Unknown/ Rare Disease

By Aditya Das, BBA G 2nd Shift, 00421201720

One rare disease that comes to mind is Friedreich's ataxia (FA). It is a progressive
neurodegenerative disorder that affects movement, speech, and heart function.

FA is caused by a genetic mutation in the frataxin gene, which is responsible for the
production of a protein called frataxin. This protein is important for the normal
function of the mitochondria, the powerhouses of the cell. Without enough frataxin,
the mitochondria cannot produce enough energy, leading to nerve and muscle
damage.

Symptoms of FA typically appear in childhood or adolescence and include difficulty

with coordination, speech, and balance. As the disease progresses, patients may
experience muscle weakness and wasting, as well as heart problems such as
cardiomyopathy. Many people with FA also experience a loss of sensation in their
limbs and difficulty with vision.

Currently, there is no cure for FA and treatment is primarily focused on managing

symptoms. Physical therapy, speech therapy, and occupational therapy can help
with coordination and mobility. Medications can also be used to manage symptoms
such as pain and spasticity.

Research into FA is ongoing, and there are several potential therapies in

development. One promising approach is gene therapy, which aims to replace the
faulty frataxin gene with a working copy. Another is the use of drugs that can
increase the production of frataxin or protect the cells from damage.

It is important for individuals and families affected by FA to have access to genetic

counseling and support from a multidisciplinary team of healthcare professionals.
The Friedreich's Ataxia Research Alliance (FARA) is an organization that provides
support and resources for individuals and families affected by the disease.

Overall, Friedreich's Ataxia is a rare, progressive and debilitating neurodegenerative

disorder caused by genetic mutation. There is no cure for the disease, but therapies
are in development and support from organizations and healthcare professionals can
be invaluable for individuals and families affected by the disease.