A multidisciplinary approach to long-term management of this progressive disorder is optimal. Treatment can be split into three categories: treatment of DTDS manifestations, prevention of secondary complications, and monitoring of overall disease progression. Manifestations Treatment to control the chorea and dyskinesia in the early stages of DTDS is done with tetrabenazine and benzodiazepines. The dystonia is more difficult to control and the first-line agents include pramipexole and ropinirole; adjuncts include trihexyphenidyl, baclofen, gabapentin, and clonidine for severe dystonia, and chloral hydrate and benzodiazepines for exacerbations of dystonia or status dystonicus. Prevention of secondary complications Regular physiotherapy is recommended to reduce the risk of contractures, shortening and hardening of the muscles. Feeding may become difficult and alternative feeding strategies including nasogastric tubes or percutaneous endoscopic gastrostomies may become necessary due to progressive bulbar dysfunction. The influenza vaccine is used in combination with prophylactic antibiotics to prevent chest infections. Monitoring Patients are evaluated every six to 12 months for early evidence of hip dislocation and spinal deformities. Risk of pulmonary aspiration is evaluated with regular swallowing assessments. Nutritional assessments are performed regularly to ensure adequate caloric intake. Treatment Preliminary experiments have examined the potential of drugs to act as pharmacological chaperones of DAT to rescue DTDS mutations. Bupropion and ibogaine appear to promote DAT maturation and functional activity by acting as pharmacological chaperones in the endoplasmic reticulum. These two drugs rescue DAT maturation and functional activity of two DTDS-associated mutations (A314V and R445C). Preclinical experiments in mice have demonstrated efficacy and safety of a potential treatment using stereotactic injection of AAV vector to deliver working copies of the DAT gene.
Dopamine transporter deficiency syndrome
Gerstmann syndrome
Scheie syndrome
Dopamine beta hydroxylase deficiency
Ohtahara syndrome
Pallister–Killian syndrome
Dopamine dysregulation syndrome
Gerstmann–Sträussler–Scheinker syndrome