What is MSD?

Sulfactasa multiple deficiency (MSD) is a hereditary metabolic disorder very little common, caused by the mutation of the gene SUMF1.

The disease is progressive and fatal that affects primarily the central nervous system and causes psychomotor delay as early symptoms. This condition is characterized by multiple deficiencies of sulfatases (enzymes arilsulfatases A, B and C). Currently there is no treatment for their care.

Patients have a neurological box that is manifested by an inability to walk, hyperextension in the knees, abolition of reflexes, generalized weakness, hypotonia (abnormally decreased tone of muscles), seizures, and optic atrophy. It is also linked to a bone involvement, with rough facial features, deafness and abnormalities in the esternon and ribs. Patients become ictiosis (dry and flaky skin) and there is an anomaly of the granulation in leukocytes or white blood cells.

This disease is autosomal recessive pattern with a hereditary genetics. Both copies of the gene in each cell must have the mutation for voice alteration. The parents of an individual with autosomal recessiva, have one copy of the mutated gene, but do not show signs of the disease.

The Ivet the only case in Spain

The Ivet is the only case known in Spain but we are fortunate not to be alone. The existing Foundations have done very good job and wake up every day with a lively hope … There is care and less than ever to be able to improve the lives of all children affected.

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It is a very complicated disease, with a life expectancy of only 10 years. There are very few medical facts for their very little history and knowledge. Currently in the world there are only about 70 registered children of whom we have direct contact with some twenty families similar to ours.

The MSD Foundation - Multiple Sulfactase Deficiency aims to promote and support advances in the scientific research of MSD.

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