18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

A 15-year-old patient has been presenting progressive weakness for about six months. He reports that he can no longer play football like he used to and that long walks are increasingly difficult to tolerate. Creatine phosphokinase (CPK) dosage was requested, which was 5200 U/L and phase deletion of exons three to 16 of the dystrophin gene. The mother's CPK dosage was also requested, within the normal range.
Past history of Autistic Spectrum Disorder diagnosis at age five, without continuous medication use.


Becker Muscular Dystrophy (BMD) is a rare disorder determined by gene mutation at locus 21 on the short arm of the X chromosome. It presents with elevated CPK levels, in addition to a myopathic pattern on electroneuromyography (rapidly recruited motor unit potentials of short duration and low amplitude).
The clinical presentation is variable, with tiptoe walking or exercise-related cramps. Muscle weakness can lead to functional difficulties, being proximally symmetrical with lower limbs more affected than upper limbs. Joint contractures and dilated myocardiopathy may occur. BMD is allelic to Duchenne Muscular Dystrophy (DMD), but has a milder phenotype and longer survival.
Autism Spectrum Disorder (ASD) is a disorder characterized by impaired language, social interaction, and repetitive behaviors and restricted interests. Although the occurrence of ASD in patients with DMD is rare (3-5%), the risk is 2 to 3 times higher than in the general population, probably due to mutations in the distal portion of the dystrophin gene, after exon 45. Since the signs and symptoms of ASD appear earlier than those of DMD, and one of the early symptoms is walking on tiptoe, it is not uncommon for patients to have a delayed diagnosis of dystrophy.
The diagnosis can be confirmed from the genetic study of dystrophin or through immunohistochemical study of the protein in muscle tissue. The treatment consists of corticotherapy, which promotes increased walking time, associated with motor and respiratory physiotherapy. The preventive use of non-invasive ventilatory support and the use of myocardial fibrosis remodeling drugs have modified
modified the survival of the disease.

Comentários finais

The suspected causes of ASD are as diverse as the spectrum itself, and , reflect the intrauterine environment, the child's early life, and genetic inheritance. Identifying early signs and symptoms and recognize its correlation with muscular dystrophy is essential for a better prognosis

Referências (se houver)

Guimarães, Katia de Oliveira Pimenta. Correlation between Autism Spectrum Disorder (ASD) and Duchenne Muscular Dystrophy (DMD): case studies using neuronal modeling. Diss. University of Sao Paulo, 2020.

Madanelo, Luciana. Assessment of autism spectrum features in patients with Duchenne Muscular Dystrophy. Diss. University of Sao Paulo, 2018.

Yoshimatsu, Mariana Mangini Miranda. Cognitive, motor and functional performance in children and adolescents with Duchenne muscular dystrophy. Diss. University of São Paulo, 2021.

Parisi, Lucia, et al. "Autism spectrum disorders in children affected by Duchenne muscular dystrophy." Pediatric Minerva 70.3 (2018): 233-239.

Palavras Chave

Becker Muscular Dystrophy
Duchenne Muscular Dystrophy
Autism Spectrum Disorder

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

There is no conflicts of interest


Doenças neuromusculares


Instituto Fernandes Figueira / Fiocruz - Rio de Janeiro - Brasil, Universidade Federal do Rio de Janeiro - Rio de Janeiro - Brasil


Tainá Maia Cardoso , Sarah Falcão Brasileiro Henriques