Diagnosing Muscular Dystrophy

Clinical Presentation and Diagnosis

The American Academy of Neurology and the American Academy of Pediatrics recommend that children without family history be suspected of muscular dystrophy if they have delayed walking (>16-18 months), Gowers' sign, frequent falls, or difficulty running or climbing stairs 1, 3
In children with positive family history, any suspicion of abnormal muscle function should prompt investigation, according to the American Academy of Neurology 1
Unexplained elevated liver enzymes in a male child should raise suspicion for muscular dystrophy before proceeding to liver biopsy, as suggested by the American Association for the Study of Liver Diseases 1, 3
A waddling gait often accompanies Gowers' sign and increases suspicion for Duchenne muscular dystrophy (DMD), as noted by the American Academy of Pediatrics 2, 4

The American College of Medical Genetics recommends measuring serum creatine kinase (CK) levels as an initial screening test, which can be performed within the primary care setting 1, 5
If CK is elevated, the American Academy of Neurology suggests proceeding to genetic testing for dystrophin gene mutations 1, 2
Genetic testing should include multiplex PCR, multiplex ligation-dependent probe amplification, and single-condition amplification/internal hybridization, as recommended by the American College of Medical Genetics 2, 6

The American Academy of Pediatrics recommends referring patients to specialized multidisciplinary follow-up after diagnosis 1, 9
Genetic counseling should be provided for at-risk female family members, as suggested by the American College of Medical Genetics 1, 9
Patients and families should be connected with support organizations, such as the Muscular Dystrophy Association, as recommended by the American Academy of Neurology 1, 9

Regular assessment of disease progression should include strength testing, range of motion, timed function tests, and activities of daily living assessment, as recommended by the American Academy of Neurology 7
Routine clinic appointments should be scheduled every 6 months, and specialist physical and occupational therapy assessments every 4 months, as suggested by the American Academy of Pediatrics 7