The Sulfactase Multiple Deficiency (MSD) is a very uncommon hereditary metabolic disorder, caused by mutation of the SUMF1 gene.
The disease is progressive and fatal that mainly affects the central nervous system and causes the delay of psychomotor activity as the first symptoms. This condition characterized by multiple deficiencies of sulfatases (arylsulfatase A, B and C enzymes). There is currently no treatment for their care.
Patients have a neurological picture that is manifested by an inability to walk, hyperextension in the knees, abolition of reflexes, generalized weakness, hypotonia (abnormal diminished tone of the muscles), convulsions and optical atrophy. It is also linked to bony involvement, with rough facial features, deafness and anomalies in sternum and ribs. Patients become ichthyosis (dry and scaly skin) and there is an intense anomaly of granulation in leukocytes or white blood cells. This genetic disease is hereditary with a recessive autosomal pattern. Both copies of the gene in each cell must have the mutation so that the alteration is expressed. Parents of an individual with autosomal recessive disease have a copy of the mutated gene, but do not show signs of pathology.
It is a very complicated disease, with a life expectancy of only 10 years. There are very few medical facts for its very rare 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.
Ivet is the only case known in Spain but we are lucky not to be alone. The existing Foundations have done a great job and we wake up every day with a lively hope … the cure exists and there is less and less in order to improve the lives of all the affected children.