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VOL. 6, ISSUE 5 (2021)
Physiotherapy role in mucopolysaccharidoses-A case report
Authors
T Bharaneedharan
Abstract
Mucopolysaccharidoses are group of metabolic disorders caused by absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycan. A 8 years old boy had enlargement of the forehead, grey cornea and difficulty in moving the neck, raising both the arms, and with bended elbows, knees and ankles. Corneal clouding, coarse or rough facial features, Dwarfism and other skeletal irregularities with difficulty in walking and getting up from the floor from the 5 years of age. MRI of brain showed macrocephaly, enlarged perivascular spaces of white matter, cervical spinal canal stenosis and NCV studies showed severe median nerve lesion on both sides leading to carpal tunnel syndrome. Tricuspid valve regurgitation & mild thickening of anterior leaflet of mitral valve was noted in echo-cardio graphy. The skeletal X-ray shows oval shaped vertebral bodies at L1, L2 and D12 minimal anterior luxation. He was diagnosed as Hurler’s Syndrome (MPS- I) at one corporate hospital, Chennai. At present the physical therapy measures like passive stretching for tightened hamstrings and tendoachilles, active exercises like strengthening of trunk and limb muscles were given to delay their joint stiffness problems and improve the ability to walk and running. Play therapy methods like throwing the air balls and cycling were also adopted Squatting as much as he possible, and stair climbing activities were encouraged to do daily. Within twenty days of physiotherapy the ROM in shoulder, elbow, wrist & knees were increased to complete his functional activities. His limitations have been improved. Follow up of 6 months were led to improve his squatting, walking & running capacity. Individualized functional assessments charts, family counseling and importance of physiotherapy were given and encouraged to do all activities of daily living by some modifications to improve the quality of life. The multi-disciplinary team approach is lack in the rural or village community areas. These lag will also lead to poor improvement or follow up of the condition.
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Pages:20-22
How to cite this article:
T Bharaneedharan "Physiotherapy role in mucopolysaccharidoses-A case report ". International Journal of Yoga, Physiotherapy and Physical Education, Vol 6, Issue 5, 2021, Pages 20-22
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