Characterization of individuals with selected muscular dystrophies from the expanded pilot of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) in the United States.

INTRODUCTION: Data on muscular dystrophies (MDs), a heterogeneous group of heritable diseases hallmarked by progressive muscle deterioration, are scarce. OBJECTIVE: We describe cross-sectional sociodemographic and clinical characteristics of individuals with congenital, distal, Emery-Dreifuss, facioscapulohumeral, limb-girdle, myotonic, or oculopharyngeal MD. METHODS: The study was conducted in four sites (Arizona, Colorado, Iowa, and 12 western New York counties) as a pilot expansion of the Muscular Dystrophy Surveillance, Tracking and Research Network, funded by the Centers for Disease Control and Prevention. MDs were detected in healthcare facilities and administrative data sources using International Classification of Disease codes. Our sample contains 1,723 individuals with a MD diagnosis and a healthcare encounter between January 1, 2007 and December 31, 2011. RESULTS AND CONCLUSIONS: Individuals were mostly non-Hispanic and white. Median ages ranged from 9.2 to 66.0 years. Most (98%) had health insurance. The proportion of individuals who were disabled or unable to work increased with age (range: 8.6-46.4%). People with limb-girdle MD aged ≥18 years were more likely to be nonambulatory (range: 24.5-44.7%). The percentages of individuals with documented clinical interventions during the surveillance period were low. The most common cause of death was respiratory causes (46.3-57.1%); an ICD-10 code for MD (G71.1 or G71.0) was reported for nearly one-half. Our findings show wide variability in sociodemographic and clinical characteristics across MDs.

Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.

BACKGROUND: For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset, and sources of care. METHODS: Our retrospective surveillance included individuals diagnosed with one of nine eligible MDs before or during the study period (January 2007-December 2011), one or more health encounters, and residence in one of four U.S. sites (Arizona, Colorado, Iowa, or western New York) at any time within the study period. We developed case definitions, surveillance protocols, and software applications for medical record abstraction, clinical review, and data pooling. Potential cases were identified by International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes 359.0, 359.1, and 359.21 and International Classification of Diseases, Tenth Revision (ICD-10) codes G71.0 and G71.1. Descriptive statistics were compared by MD type. Percentage of MD cases identified by each ICD-9-CM code was calculated. RESULTS: Of 2,862 cases, 32.9% were myotonic, dystrophy 25.8% DBMD, 9.7% facioscapulohumeral MD, and 9.1% limb-girdle MD. Most cases were male (63.6%), non-Hispanic (59.8%), and White (80.2%). About, half of cases were genetically diagnosed in self (39.1%) or family (6.2%). About, half had a family history of MD (48.9%). The hereditary progressive MD code (359.1) was the most common code for identifying eligible cases. The myotonic code (359.21) identified 83.4% of eligible myotonic dystrophy cases (786/943). CONCLUSIONS: MD STARnet is the only multisite, population-based active surveillance system available for MD in the United States. Continuing our expanded surveillance will contribute important epidemiologic and health outcome information about several MDs.