Dopamine transporter deficiency syndrome
Medical condition / From Wikipedia, the free encyclopedia
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Dopamine transporter deficiency syndrome (DTDS), also known as infantile parkinsonism-dystonia, is a rare movement disorder that causes progressively worsening dystonia and parkinsonism. It is the first known inherited dopamine 'transportophathy.'[1]
Dopamine transporter deficiency syndrome | |
---|---|
Other names | Infantile Parkinsonism-Dystonia |
Symptoms | Rigidity, tremors, slowness of movement, Parkinsonism-dystonia. |
Usual onset | <6 months |
Causes | Autosomal recessive SLC6A3 mutation |
Diagnostic method | Molecular genetic screening |
DTDS is an extremely rare disease; only about 20 affected individuals have been described in the medical literature. Researchers believe this condition is likely underdiagnosed because its signs and symptoms overlap with other movement disorders, including cerebral palsy.[2]
The onset of DTDS is a continuum that ranges from early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood).