Apr 11, 2022
The participant was delivered via C-section due to breech presentation after an uncomplicated pregnancy. She was noted to have low muscle tone (hypotonia) as an infant, and she had gross motor delay. She began crawling at 11 ½ months. She began walking at approximately 1.5 to 2 years of age and was noted to have problems with coordination when walking (ataxia). The participant was not delayed in terms of speech development, but she does have slurred speech (dysarthria) and a hoarse voice (dysphonia). She required extra time and assistance in school, primarily for her physical disability. She recently graduated from high school and is currently taking college classes. A recent neuropsychological evaluation noted cognitive performance in the borderline range, with processing speed being her area of greatest weakness.
The participant was noted to have a tremor in her right arm and hand beginning at approximately 10 months, and she developed tremors in her other limbs over the coming months. She developed involuntary muscle contractions (dystonia) in early childhood and progressive abnormal muscle tightness or stiffness (spasticity). She began experiencing numbness and abnormal sensations (acroparesthesias) at about age 10 and was found to have damage to her nerves (axonal peripheral neuropathy) by both nerve conduction studies and nerve biopsies.
A number of medications have been tried to treat this participant’s symptoms. Most have not been helpful, but medications to treat low dopamine have resulted in dramatic improvements. She began taking levodopa-carbidopa (Sinemet) at age 3. At age 20, rotigotine (Neupro) was added to extend the effect of levodopa-carbidopa. A recent imaging study called a DaTscan confirmed low dopamine in the brain.
The participant awakens with significant stiffness and dystonia and is unable to get out of bed without help. However, her symptoms improve after she takes her first dose of levodopa-carbidopa. As a young teen, the participant began utilizing a wheelchair to help conserve her energy.
In her late teens, the participant began to feel stinging and zapping pains throughout her body. These sensations are thought to be nerve pain, related to her diagnosis of neuropathy. She also has some symptoms that are suspected to be due to autonomic dysfunction.
Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms. The change was inherited from a mosaic, unaffected parent.
If this participant sounds like you or someone you know, please contact us!
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