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International guidelines for the management and treatment of Morquio A syndrome.

Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R - Am. J. Med. Genet. A (2014)

Bottom Line: Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems.The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients.Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists.

View Article: PubMed Central - PubMed

Affiliation: Salford Royal NHS Foundation Trust, Salford, UK.

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GAG deposits within walls of the upper airway of a patient with Morquio A causing narrowing of the pharynx and larynx.
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fig04: GAG deposits within walls of the upper airway of a patient with Morquio A causing narrowing of the pharynx and larynx.

Mentions: Respiratory impairment is the leading cause of morbidity and mortality in patients with Morquio A syndrome and can be due to obstructive or restrictive disease [Montaño et al., 2007; Berger et al., 2012]. The upper and lower airways of Morquio A patients can be narrowed and tortuous due to a combination of GAG deposition in airway walls (Fig. 4), abnormalities in the skull or spine, tracheal distortion, tracheobrochnomalacia, and thickened secretions. Patients may develop airway occlusion upon neck flexion and adopt a “sniff position” to preserve airway patency. Restrictive disease can develop due to a small and abnormally shaped thoracic cage or impaired diaphragmatic motility [Berger et al., 2012]. An early sign of respiratory impairment is sleep disordered breathing (SDB), i.e., obstructive sleep apnea (OSA) or sustained hypoventilation. Over time, SDB can have cardiovascular consequences, such as pulmonary hypertension, with consecutive development of cor pulmunale, and can lead to cardio-respiratory failure.


International guidelines for the management and treatment of Morquio A syndrome.

Hendriksz CJ, Berger KI, Giugliani R, Harmatz P, Kampmann C, Mackenzie WG, Raiman J, Villarreal MS, Savarirayan R - Am. J. Med. Genet. A (2014)

GAG deposits within walls of the upper airway of a patient with Morquio A causing narrowing of the pharynx and larynx.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4309407&req=5

fig04: GAG deposits within walls of the upper airway of a patient with Morquio A causing narrowing of the pharynx and larynx.
Mentions: Respiratory impairment is the leading cause of morbidity and mortality in patients with Morquio A syndrome and can be due to obstructive or restrictive disease [Montaño et al., 2007; Berger et al., 2012]. The upper and lower airways of Morquio A patients can be narrowed and tortuous due to a combination of GAG deposition in airway walls (Fig. 4), abnormalities in the skull or spine, tracheal distortion, tracheobrochnomalacia, and thickened secretions. Patients may develop airway occlusion upon neck flexion and adopt a “sniff position” to preserve airway patency. Restrictive disease can develop due to a small and abnormally shaped thoracic cage or impaired diaphragmatic motility [Berger et al., 2012]. An early sign of respiratory impairment is sleep disordered breathing (SDB), i.e., obstructive sleep apnea (OSA) or sustained hypoventilation. Over time, SDB can have cardiovascular consequences, such as pulmonary hypertension, with consecutive development of cor pulmunale, and can lead to cardio-respiratory failure.

Bottom Line: Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems.The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients.Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists.

View Article: PubMed Central - PubMed

Affiliation: Salford Royal NHS Foundation Trust, Salford, UK.

Show MeSH
Related in: MedlinePlus