title: Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.
abstract: Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.
authors.affiliation: Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK. chris.hendriksz@bch.nhs.uk
authors.forename: Christian J
authors.initials: CJ
authors.lastname: Hendriksz
authors.forename: Maisoon
authors.initials: M
authors.lastname: Al-Jawad
authors.forename: Kenneth I
authors.initials: KI
authors.lastname: Berger
authors.forename: Sara M
authors.initials: SM
authors.lastname: Hawley
authors.forename: Rebecca
authors.initials: R
authors.lastname: Lawrence
authors.forename: Ciarán
authors.initials: C
authors.lastname: Mc Ardle
authors.forename: C Gail
authors.initials: CG
authors.lastname: Summers
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Wright
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Braunlin
mesh_terms: D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000188:drug therapy* / Q000503:physiopathology*; D011788:Quality of Life