Page 48 - Demo
P. 48


                                    Chapter 246specific nutritional and/or pharmacological interventions with improvement in parkinsonism.120 Other examples include disorders of lipid metabolism (like cerebrotendinous xanthomatosis and X-linked adrenoleukodystrophy) and 5,10-methylenetetrahydrofolate reductase deficiency.117 Discoveries continue to be made regarding the development of treatment in inborn errors of metabolism that may have been associated with parkinsonism, making it an important and evolving group of disorders.Management of parkinsonism requires a coordinated multidisciplinary approach in view of the comorbidity in many GNDs, that may involve clinical experts from many subspecialties in addition to the family doctor and movement disorder specialist.  Parkinsonism has been reported in 69 different genetic neurodevelopmental disorders (GNDs). GNDs are genetically and clinically heterogeneous. Patients with both a GND and parkinsonism is a growing population due to improved detection and clinical care. Identification of a genetic disorder is important for several reasons, e.g.: end the ‘Diagnostic Odyssey’, counseling of patients and their families, connect patients to patient organizations for peer support, and to provide long-term clinical/preventative care. Many GNDs are multisystem diseases with neurological and non-neurological manifestations. Many GNDs that present with parkinsonism require coordinated multidisciplinary care involving health care professionals from several medical and non-medical disciplines. Treatable inborn errors that present with neurodevelopmental problems and parkinsonism are an evolving group of disorders. Research in GNDs may help unravel the complex processes underlying parkinsonism. International research collaborations with detailed phenotype analysis (‘deep phenotyping’) are needed to further our knowledge, and to overcome the issue of the limited number of patients with individually rare conditions.Figure 3. Main messages 
                                
   42   43   44   45   46   47   48   49   50   51   52