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Developmental Neurogenetics Clinic
Diagnostic evaluation
and consultative assistance for infants, children or adults with neurodevelopmental/neurometabolic
disorders.
Comprehensive evaluation of families and genetic counseling a specialty.
We have expertise in the leukodystrophies, lysosomal disorders [infantile, juvenile, late-onset forms], peroxisomal disorders, mitochondrial disorders; clinical syndromes of developmental delay/regression/mental retardation; familial disorders affecting nervous or multisystems; dystonias, ataxias; cerebral palsy and multiple sclerosis masqueraders.
Nurse genetic specialist and genetic
counselor are available. We specialize in appropriate research referral.
Specialized subunits:
Gaucher Clinic
Fabry Clinic
Energy Metabolism Disorders Clinic
Active referral affiliation with pediatric and adult Partners services: including neuropthalmology, epilepsy, orthopedics, general and neurosurgery, dermatology, PT/OT and Speech & Language therapists, neuropsychologic testing and psychology/psychiatry. State of the art neuroimaging facilities including: proton MRI/MRS, PET, MEG. Affiliated with the MGH Neurogenetics DNA Diagnostic Lab.