[Duchenne muscular dystrophy: Case of atypical presentation and early diagnosis]

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Duchenne muscular dystrophy (DMD) is a common, X-linked recessive disorder affecting 1 in 3300 male births.
• While often hereditary, sporadic cases occur, with diagnosis typically around 4.83 years, though earlier detection is possible.
• Early identification of DMD is crucial for timely management and intervention.

Observation:

• An 18-month-old infant presented with failure to thrive, malnutrition, and respiratory issues.
• Clinical findings included hypotonia and elevated creatine kinase, suggesting myopathy.
• Initial genetic testing for DMD was negative.

Findings:

• Muscle biopsy revealed a complete absence of dystrophin.
• A subsequent, more sensitive genetic analysis identified a previously undescribed mutation.
• This highlights limitations in standard genetic screening for DMD.

Implications:

• Advanced genetic analysis is vital for diagnosing atypical DMD cases.
• Identifying novel mutations expands our understanding of DMD genetics.
• This case underscores the importance of correlating clinical, biochemical, and pathological findings for accurate diagnosis.