Résumé :
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Introduction: Pompe disease (acid maltase deficiency) is a rare, progressive, and often fatal metabolic myopathy caused by deficiency of the enzyme acid alpha-glucosidase. Clinical manifestations vary significantly with respect to age at onset, rate of disease progression, and extent of organ involvement. Description: To gain a better understand of the natural course of Pompe disease, a global, voluntary, observational Registry was developed to collect anonymous, longitudinal data on Pompe patients. Preliminary data overview: As of September 2007, 400 patients from 23 countries are enrolled in the Pompe Registry. The majority of patients (71%) are Caucasian; currently, Europe and North America enroll 85% of patients. For infants (n=78, 20%), the median age at symptom onset was 2.0 months, median age at diagnosis 4.0 months. Typically these patients experience cardiomyopathy, profound skeletal and respiratory muscle weakness, and death within the first year of life. For adults (n=238, 60%), the median age at symptom onset was 26.3 years, median age at diagnosis 34.5 years. These patients display progressive proximal skeletal and respiratory muscle weakness. Patients currently >18 years old (n=259) report the following symptoms most frequently: muscle weakness in lower extremities (81%, including inability to run [66%] and use of a walking device [45%]), upper extremities (71%), and trunk (57%); shortness of breath after exercise (61%) and at rest (33%); dependence on respiratory support (39%); sleep disturbance/apnea (37%); hypotonia (35%); orthopnea (34%); and scapular winging (31%). Summary: Pompe Registry data show that the time from onset of Pompe symptoms to diagnosis represents a significant lag in adults, which is often due to misdiagnosis and highlights the need for greater disease awareness. As the Pompe Registry matures, data on prevalence and age at onset of symptoms in various patient subgroups may allow physicians to identify patients at an earlier stage of disease progression.
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