Recovery of Little Aya from Genetic Dystonia Symptoms

Dystonia, also known as “muscle tone disorder,” causes involuntary muscle contractions. Aya experienced involuntary movements that made it extremely difficult for her to walk or behave like other children of her age. She faced major challenges playing or enjoying time with friends. Additionally, these movements sometimes were painful, like repeated electric shocks. Her movements also seemed jerky and unnatural, which made her feel sad about not being able to be a normal child like other children, and could be bullied by others.

There is no specific cause for dystonia in general. However, scientists believe it is linked to a problem in the basal ganglia in the brain, which controls muscle contractions. Dystonia occurs when nerve communication in this region is disrupted.

Dystonia has multiple types and is caused by genetic or hereditary factors. Aya was diagnosed with genetic dystonia, inherited from one of her parents. A child is more likely to develop hereditary muscle tone disorders if a close relative, especially a sibling, shows similar symptoms and has been diagnosed.

Certain gene mutations, such as the rare DYT1 mutation, are known to cause dystonia that typically begins in childhood. This type primarily affects the arms and legs and can cause severe disability. 

Aya's family was searching for a doctor specializing in movement disorders. They consulted several doctors and tried numerous treatments without success. While searching social media, they found some patients recommending Dr. Zeiad Yossry, Professor of Neurosurgery and Parkinson's Disease. The family prioritized three key qualities in a doctor:

1. Specialized expertise: The doctor must be specialized and experienced in this specific condition, as not all neurologists treat all brain and nerve disorders. Furthermore, movement disorders are a highly specialized specialty within the neurological field, which prompted her family to consult Dr. Zeiad Yossry.

2. Ability to deal with children: It was important for her family that the doctor be able to treat her gently and have extensive experience in pediatric neurology.

3. Transparency and credibility: The doctor must be honest with the family and explain the treatment options with complete clarity and transparency.

There is no single test to confirm dystonia. Therefore, diagnosis relies on experience. Dr. Zeiad Yossry conducted a comprehensive evaluation of Aya's condition through assessing her symptoms and family medical history, in addition to a physical examination. He also ordered genetic tests to rule out other conditions and confirm dystonia, along with additional investigations such as an electroencephalogram (EEG) and blood and urine tests.

Thanks to the expertise and experience of Dr. Zeiad Yossry, Professor of Neurosurgery and Parkinson's Disease, little Aya was able to control her genetic dystonia successfully. Aya fully recovered from the symptoms of involuntary movements and walking difficulties she had been suffering from, and became a completely normal child, able to play and have fun freely like other children.