Hurler syndrome is a condition that affects children and is characterized by the body's inability to produce an enzyme, lysosomal alpha-L-iduronidase, which breaks down long chains of sugar molecules called mucopolysaccharides. These molecules are located in mucus and fluid surrounding the joints. The lack of this enzyme causes the build-up of mucopolysaccharides that can damage organs and inhibit motor abilities. Physical therapy is often prescribed in addition to medicinal treatments for this condition.
Physical Therapy and ERT
A study published in 2010 in the "Journal of Inherited Metabolic Disease" assessed the effectiveness of physical therapy along with enzyme replacement therapy (ERT) for patients suffering from Hurler syndrome. The researchers evaluated the range of motion of 17 patients for up to 208 weeks during and after physical therapy and ERT. The study found that patients with normal mental development had improved mobility from physical therapy. The authors recommended physical therapy including passive techniques for joint mobility, active gymnastics for muscle power and massage in conjunction with ERT.
Umbilical Cord Blood Transplantation
A study published in 2007 in "Physical Therapy" investigated the benefits of umbilical cord blood transplantation (UCBT) and physical therapy for 21 children with marked gross motor delays due to Hurler syndrome. The researchers documented the motor abilities of the participants and found that they had varying degrees of improved motor abilities over 48 months of treatment. The study concluded that physical therapists should individualize treatments for patients and urged further research on UCBT and physical therapy in Hurler's syndrome patients.
Gross Motor Abilities
There is scarce information on the treatment of children with Hurler syndrome, according to a November 2006 study in "Developmental Medicine and Child Neurology." In this study, the researchers assessed the gross motor abilities of four children afflicted with Hurler syndrome, who were previously untreated for the disorder, and noted severe impairments for each. The authors concluded that children should be referred to physical therapy immediately upon diagnosis with Hurler syndrome.
Early Diagnosis
An study published in 2005 in "Current Opinions in Rheumatology" found that early diagnosis and timely intervention were the most important factors in treatment of children with Hurler syndrome. The authors recommended rigorous physical and occupational therapy immediately upon diagnosis as part of a comprehensive management approach.
References
- "Current Opinion in Rheumatology"; Musculoskeletal Complications Associated with Lysosomal Storage Disorders: Gaucher Disease and Hurler-Scheie Syndrome (Mucopolysaccharidosis Type I); G. Pastores, et al.; January 2005
- "Developmental Medicine and Child Neurology"; Gross Motor Abilities in Children with Hurler Syndrome; S. Dusing, et al.; November 2006
- "Physical Therapy"; Gross Motor Development of Children with Hurler Syndrome after Umbilical Cord Blood Transplantation; S. Dusing, et al.; November 2007
- "Journal of Inherited Metabolic Disease"; Efficacy of Recombinant Human Alpha-L-Iduronidase (Laronidase) on Restricted Range of Motion of Upper Extremities in Mucopolysaccharidosis Type I Patients; A. Tylki-Szymanska, et al.; April 2010
