Type 1 GM1 gangliosidosis presents in infancy and is characterized by developmental delay and regression, progressive rigidity and spasticity, cardiomyopathy, and loss of vision and hearing. Life expectancy is 2 to 3 years. [sema4.com]

The severe form becomes apparent between the ages of one and three and typically presents with knock-knees and breastbone prominence. The slowly progressing form, which may not become apparent until adolescence, presents with hip pain and stiffness. [rarediseases.org]

The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr. 1995;84:337-9. (27) Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. [revista.spr.org.py]

Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34:1183–97. [ncbi.nlm.nih.gov]

Two‐thirds of patients present central nervous system (CNS) involvement, representing the more severe form, with clinical features appearing between two and four years of age. [cochranelibrary.com]

• Dysostosis

  The most common clinical signs and symptoms include dysostosis multiplex with decreased range of joint motion, coarse facial features, enlarged tongue, hearing loss, abnormal dentition, upper airway obstruction with or without sleep apnoea, restrictive [cochranelibrary.com]

• Hip Dislocation

  dislocation and arthritis and/or a prominent breast bone (pectus carinatum). [rarediseases.org]

• Hearing Impairment

  Additionally, ventilation tubes and hearing aids may be needed for individuals with hearing loss. [rarediseases.org]

Results showed that the growth velocity after treatment was significantly improved compared with before treatment. [cochranelibrary.com]

International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines. [revista.spr.org.py]

Standard Therapies Treatment In 2014, the FDA approved a recombinant human GALNS enzyme replacement therapy (elosulfase alfa, or Vimizim) for the treatment of MPS IVA. Vimizim is manufactured by BioMarin Pharmaceutical Inc. [rarediseases.org]

Multidisciplinary treatment approach of Morquio syndrome (mucopolysaccharidosis type IVA). Angle Orthod. 2006;76:335–40. [ncbi.nlm.nih.gov]

Other tests may include: Blood culture Echocardiogram Genetic testing Hearing test Slit-lamp eye exam Skin fibroblast culture X-rays of the long bones, ribs, and spine MRI of the lower skull and upper neck Treatment For type A, the medicine called elosulfase [ufhealth.org]

[…] information about MPS IV: National MPS Society -- mpssociety.org National Organization for Rare Disorders -- rarediseases.org/rare-diseases/morquio-syndrome NIH Genetics Home Reference -- ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv Outlook (Prognosis [ufhealth.org]

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2018;125:18-37. [PMC free article: PMC6175643] [PubMed: 29779902] Pruszczynski B, Mackenzie WG, Rogers K, White KK. [ncbi.nlm.nih.gov]

However, it is difficult to establish a genotype‐phenotype correlation to provide an indication of the likely prognosis, this is because patients carrying the same alterations may present different phenotypes, suggesting that others factors may modulate [cochranelibrary.com]

A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped. [ufhealth.org]

Surgery to decompress and fuse the bones of the upper neck to the base of the skull can prevent destabilization of the cervical vertebrae and potential damage to the spinal cord. [rarediseases.org]

Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the [ncbi.nlm.nih.gov]