The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis. In some families where the disease-causing mutations are known, and in certain genetic isolates, mutation analysis may be performed. In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders.
medical cause of Metachromatic leukodystrophy
symptom of Pantothenate kinase-associated neurodegeneration
medical cause of Polyneuropathy
medical cause of Parkinsonism
symptom of Spinocerebellar ataxia type 1
complications of Friedreich's ataxia
symptom of Bannayan–Riley–Ruvalcaba syndrome
symptoms of Rabies