This module describes two Australian cases, one adult and one paediatric, both suffering from progressive muscle weakness, exercise intolerance, mobility problems, shortness of breath, nocturnal breathing issues, and other nonspecific symptoms.

The purpose of this module is to raise awareness of the symptoms and natural history of one of the treatable lysosomal storage diseases, and to improve the index of suspicion to provide an earlier diagnosis and management of complications.

Published: March 8, 2021

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