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What are the signs and symptoms of mucopolysaccharidoses (MPS)?

The subtypes of mucopolysaccharidoses (MPS) share many clinical features, but have varying degrees of severity. These features may not be apparent at birth, but progress as storage of glycosaminoglycans affects bone, skeletal structure, connective tissues, and organs. Neurological complications may include damage to neurons, as well as pain, and impaired motor function. This results from compression of nerves or nerve roots in the spinal cord or in the peripheral nervous system, the part of the nervous system that connects the brain and spinal cord to sensory organs, such as the eyes to other organs, muscles, and tissues throughout the body.

Depending on the MPS subtype, affected individuals may have normal intellect or may be profoundly retarded, experience developmental delay, or may have severe behavioral problems. Many individuals have hearing loss, either conductive (in which behind the ear drum causes fluid from lining of the middle ear), neurosensitive, or both. Surgically inserting a shunt into the brain can drain the fluid. The eye's cornea often becomes cloudy from intracellular storage, and degeneration of the retina, and glaucoma may also affect the patient's vision.

Physical symptoms include rough facial features (flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk, dysplasia and other skeletal irregularities, thickened skin, enlarged organs such as liver or spleen, hernias, and excessive body hair growth. Short and often claw-like hands, progressive joint stiffness, and carpal tunnel syndrome can restrict hand mobility and function. Recurring respiratory infections are common, as are obstructive airway diseases, and sleep apnea. Many affected individuals also have heart disease, involving enlarged or diseased heart valves.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.