dopa responsive disorders

Friedman J, Hyland K, Blau N, MacCollin M. Dopa-responsive hypersomnia and mixed movement disorder due to seriapterin reductase deficiency. Neurology 2006:67:2032-2035.

Defects in monoamine synthesis are associated with phenotypes of developmental delay, diurnal variation in symptom severity, and dopa-responsive dystonia. A subset also with cognitive delay due to SPR (seriapterin reductase ) gene have dopa and serotonergic responsive hypersomnolence and movement disorder responsive.

Case report-- 27 year old woman with "CP" had delayed milestones, abnormal gait, incoordination, and hypersomnolence. Other maternal relatives had abnormal limb posturing. She had FSIQ 60, punctate cataracts, oculomotor apracis, dysarthria, bradykinesia, , PTOSIS, generalized dystonia, myoclonus, normal MRI/PET.

CSF showed decreased 5HIAA and HVA and increased 7,8 dihydropterin c/w SRD. Treatment with Sinemet and selegeline and later combined with sertraline helped.

The same patient was FIRST treated with sertraline alone (akathisia), melatonin (dystonic neck spasms), 5 hydroxytriptophan (helped but led to increased LFT's), levodopa-carbidopa (caused dyskinesias; these are rare in DRD or dopa responsive dystonias).

Inheritance is AR. Further information available at the BIODEF database (www.bh4.org)