Maroteaux-Lamy syndrome or Mucopolysaccharidosis VI is a rare hereditary disease, in which the carriers have the following characteristics:
- Short stature, facial deformities, short neck, recurrent otitis, diseases of the respiratory tract, skeletal malformations and muscular stiffness.
The disease is caused by changes in the enzyme Arylsulfatase B, which prevent it from performing its function, which is to degrade polysaccharides, which in turn are accumulated in the cells, developing the characteristic symptoms of the disease.
People with the syndrome have normal intelligence, so children do not need a special school, only adapted materials that facilitate interaction with teachers and classmates.
The diagnosis is made by a geneticist based on clinical evaluation and laboratory biochemical analyzes. The diagnosis in the first years of life is very important for the elaboration of an early intervention plan, which will help in the child's development and in referring parents to genetic counseling, since they are at risk of passing the disease on to their later children.
There is no cure for Maroteaux-Lamy Syndrome, but some treatments such as bone marrow transplantation and enzyme replacement therapy prove to be effective in reducing symptoms. Physiotherapy is used to decrease muscle stiffness and increase the individual's body movements. Not all carriers have all the symptoms of the disease, the severity varies from individual to individual, some are able to live a relatively normal life.
