The prenatal diagnosis is difficult and must be performed in centers with expertise in the specialized techniques required for this diagnosis. At present, no specific therapy is available. Optimal supportive care, including physical, occupational and speech therapy, can significantly improve the function and quality of life of affected children. Families with affected children should seek genetic counseling and be offered the option of prenatal diagnosis for future pregnancies. Contributions to sustain and expand this research are gratefully accepted.
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This column is devoted to recent advances in ML4 research. The NIH recently approved a three year grant of over one million dollars to Harvard University specifically for ML4 research. The ML4 Foundation has successfully lobbied the Congressional House Appropriations Committee to include ML4 as one of twenty neurological diseases as a NIH research priority. The supporters of the ML4 Foundation are, of course, very excited about the outcome of our current funding and the future prospects of the accomplished researchers that receive our support. The MGH Molecular Genetics Unit recently utilized an approach called linkage analysis to discover a region on chromosome 19 that harbors the ML4 gene.