Università degli studi di Modena e Reggio Emilia

Università degli Studi di Modena e Reggio Emilia
Corso di laurea in infermieristica - Sede di Modena

Abstract

Metachromatic leukodystrophy is a rare autosomal recessive lysosomal storage disease that causes progressive demyelination of the central and peripheral nervous system.
It is inherited in an autosomal recessive manner. Consequently, there is a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
The disorder seems to occur throughout the world, with an overall prevalence of arylsulfatase A deficiency that has been reported at between 1:40,000 and 1:160,000 in different populations; however, most data come from European and North American populations.
There are three different clinical forms or subtypes, which are distinguished above all by the age of onset, and the diagnosis is based on the enzyme assay in leukocytes or cultured fibroblasts and on increased urinary excretion of sulfatides.
No curative treatment is currently available for this disease.
Because MLD affects the whole family, management should include a team of professionals to provide genetic counseling and family support through what is often a long disease process and in which nurses play an important role.
Moreover, it is provided a management tool, using the planning-based nursing taxonomy NANDA-I, NIC and NOC, that involves the entire nursing process.