About AADC Deficiency
AADC Deficiency is a rare CNS disorder arising from reductions in the enzyme aromatic L-amino acid decarboxylase (AADC) that result from mutations in the dopa decarboxylase (DDC) gene. This reduction leads to deficits in the neurotransmitters dopamine, norepinephrine, epinephrine, serotonin and melatonin. In the brain, AADC is responsible for the final step in the synthesis of neurotransmitters dopamine (the precursor of norepinephrine and epinephrine) and serotonin (the precursor of melatonin). Symptoms and severity of AADC Deficiency can vary depending on the type of underlying genetic mutation which abrogates AADC enzyme function. Severe forms can arise from specific DNA mutations. In its profound forms, AADC Deficiency causes severe developmental, the inability to develop any motor strength and control (global muscular hypotonia/dystonia) resulting in breathing, feeding, and swallowing problems, frequent hospitalizations, and the need for life-long care. Patients with severe forms often die in the first decade of life due to profound motor dysfunction, autonomic abnormalities, and secondary complications such as choking, hypoxia, and pneumonia. No treatment options other than palliative care currently exist for many AADC patients.
About Friedreich’s Ataxia
Friedreich’s ataxia (FA) is an inherited neuromuscular disorder most commonly caused by a single genetic defect in the FXN gene that leads to reduced production of frataxin, a mitochondrial protein that is important for cellular metabolism and energy production.
FA results in a physically debilitating, life-shortening condition and is the most common hereditary ataxia, with an estimated 5,000 to 10,000 patients in the US (i.e., one in every 50,000 people). Both male and female children can inherit the disorder.
Symptoms of FA include progressive loss of coordination and muscle strength, which lead to the full-time use of a wheelchair; scoliosis (which often requires surgical intervention); diabetes mellitus; hearing and vision impairment; serious heart conditions; and premature death.
Current FA therapies are primarily focused on symptom relief, and there are no FDA-approved drugs to treat the cause of FA.
About Angelman Syndrome
Angelman Syndrome (AS) is a severe neurological development disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech, have seizures and sleeping difficulties. Angelman Syndrome is caused by a problem with UBE3a gene and affects all races and both genders equally. It is estimated that there are up to 15,000 people in the US living with AS.
Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability. Many individuals with Angelman Syndrome are attracted to water and take great pleasure in activities like swimming and bathing.
People living with AS require life-long care, intense therapies to help develop functional skills and improve their quality of life, and close medical supervision involving multiple interventions. Angelman Syndrome may be misdiagnosed since other syndromes have similar characteristics. There are currently no approved treatments for AS.