From the Guidelines
Muscular dystrophy is not typically diagnosed at birth. Most forms of muscular dystrophy are diagnosed during childhood or adolescence when symptoms such as muscle weakness, delayed motor development, or difficulty with physical activities become noticeable. According to a recent study published in 2024 1, the average age of diagnosis in the UK is around 4 years. Duchenne muscular dystrophy, one of the most common forms, is usually diagnosed between ages 3 and 6 when children show signs like trouble running, jumping, or climbing stairs. Some forms may be diagnosed later in life, even in adulthood. While newborn screening for muscular dystrophy is not routinely performed, early diagnosis can occur if there's a family history of the condition, prompting genetic testing, as suggested by a study published in 2010 1. Diagnosis typically involves a combination of clinical evaluation, blood tests for muscle enzymes like creatine kinase, genetic testing, muscle biopsies, and electromyography. The progressive nature of muscular dystrophy means symptoms develop gradually over time rather than being present at birth, which is why diagnosis usually occurs when developmental delays or muscle weakness become apparent.
Key points to consider in the diagnosis of muscular dystrophy include:
- Clinical evaluation and medical history
- Blood tests for muscle enzymes like creatine kinase
- Genetic testing
- Muscle biopsies
- Electromyography
- Referral to specialized multidisciplinary follow-up, as recommended by a study published in 2010 1
- Genetic counseling for at-risk female family members
It's essential to note that early diagnosis and intervention can significantly impact the quality of life and morbidity of patients with muscular dystrophy, highlighting the importance of prompt recognition and referral to specialized care.
From the Research
Diagnosis of Muscular Dystrophy
- Muscular dystrophy is not typically diagnosed at birth, as the symptoms often develop gradually and may not be apparent until later in childhood 2.
- The earliest features of muscular dystrophy may be difficult to identify and determine, but established disease is characterized by muscle weakness and wasting 2.
- Diagnosis of muscular dystrophy often involves a combination of clinical evaluation, genetic testing, and laboratory tests such as serum creatine kinase levels 2, 3.
Timing of Diagnosis
- Duchenne muscular dystrophy, the most common form of muscular dystrophy, is often diagnosed in early childhood, typically between the ages of 2 and 5 years 4, 5.
- Other forms of muscular dystrophy may be diagnosed later in childhood or even in adulthood, depending on the specific type and severity of the disease 2, 3.
Diagnostic Methods
- Genetic testing, including next-generation sequencing (NGS), is a useful tool for diagnosing muscular dystrophy and identifying the underlying genetic mutation 6.
- Other diagnostic methods, such as muscle biopsy and serum creatine kinase levels, may also be used to support a diagnosis of muscular dystrophy 2, 3.