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[Delayed diagnosis of Duchenne muscular dystrophy in Chile]
M de los Angeles Avaria1, K Kleinsteuber, L Herrera
1Servicio de Neuropsiquiatría Infantil, Hospital Clínico San Borja Arriarán, Facultad de Medicina, Universidad de Chile.
Insights
Delayed diagnosis of Duchenne muscular dystrophy (DMD) is common in children. Recognizing early symptoms like delayed walking is crucial for timely intervention in this frequent neuromuscular disorder.
Area of Science:
- Pediatric Neurology
- Genetics
- Rare Diseases
Context:
- Duchenne muscular dystrophy (DMD) is the most prevalent pediatric neuromuscular disease.
- Early recognition is critical for managing this progressive condition.
Purpose:
- To investigate the reasons behind the delayed diagnosis of Duchenne muscular dystrophy in children.
- To identify factors contributing to the significant time lag between symptom onset and accurate diagnosis.
Summary:
- Analysis of 61 DMD cases revealed symptom onset at 1.5 years, parental consultation at 3 years, and diagnosis at 5.7 years.
- Diagnosis occurred within the first four years for only 15% of patients, with many misdiagnosed as flat feet.
- Lack of recognition of nonspecific symptoms like delayed walking and frequent falls contributes significantly to diagnostic delays.
Impact:
- Highlights the critical need for increased awareness among healthcare professionals regarding early signs of DMD.
- Recommends measuring creatine phosphokinase (CPK) and evaluating male children not walking independently by 18 months.
- Aims to reduce diagnostic delays and improve outcomes for children with Duchenne muscular dystrophy.
Background:
Duchenne muscular dystrophy is the most frequent neuromuscular disease in children.
Aim:
To determine the causes of delayed diagnosis of the disease.
Patients And Methods:
The clinical records of 61 children diagnosed as Duchenne progressive muscular dystrophy were analyzed.
Results:
the first symptoms of the disease were noticed at a mean age of 1.5 years. Parents consulted at the mean age of 3 years, but the accurate diagnosis was made at a mean age of 5.7 years. In only 15% of children, the disease was diagnosed in the first four years of age. Less than 20% of children were referred for an adequate study and the rest were managed mainly as flat feet.
Conclusions:
Duchenne dystrophy is the most common neuromuscular disorder in children, with an incidence of 1 in 3679 male newborns. The lack of recognition of non specific symptoms such as retardation in independent walking and frequent falls as forms of presentation, is probably the most important cause of diagnostic delay. Strong recommendation is made to measure creatinphosphokinase and to study every male child that is not walking independently by the age of 18 months.