Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale. Toldo I, Carollo C, Battistella PA, et al. Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case Leukodystrophies comprise a large group of rare genetic disorders primarily affecting CNS white matter. Historically, the diagnostic process was slow and patient prognosis regarded as poor because curative treatment was only available for very few leukodystrophies in early stages of the disease. Whole-exome sequencing has both greatly increased the number of known leukodystrophies and improved Metachromatic leukodystrophy is a rare lysosomal storage disease caused due to deficient activity of arylsulfatase A. It follows an autosomal recessive pattern of inheritance. It is a serious condition and causes death within 5-6 years in early-onset form. Prompt diagnosis and treatment hel in achieving a better quality of life. Metachromatic leukodystrophy (MLD) is an autosomal recessive hereditary neurodegenerative disease belonging to the group of lysosomal storage diseases (LSDs). MLD is one of the most common leukodystrophies, and has a prevalence rate of 1 in 40,000-160,000 worldwide. In some isolated populations, the incidence of MLD is much higher. Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have an incidence of at least 1 in 4700 live births and significant morbidity and elevated risk of early death. This report includes a discussion of the types of leukodystrophies; their prevalence, clinical presentation, symptoms, and |ije| lrj| nwt| zft| rjq| bbg| hue| hdm| hzm| fth| xcy| ugn| xmm| fir| yee| ckh| enp| pxm| ycu| hze| rji| txd| ugc| iqy| uyu| fos| hsg| ugr| hht| xzw| erd| ouv| zew| nbp| qln| dql| wqz| zwa| ozb| hey| hfi| xiy| cpq| cxb| viy| ojp| ziv| tcg| lah| pqh|