Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype

Harada, Yoshiteru; Sorensen, Seth T.; Aravindhan, Akilandeswari; Stefans, Vikki; Veerapandiyan, Aravindhan

doi:10.1055/s-0039-1698437

Cited by 2 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1 Milder cases of asymptomatic elevation of serum creatine kinase and predominant behavioral problems are not uncommon. 2,3 The central nervous system involvement in dystrophinopathy has been recognized 4,5 but understudied. A wide range of neurodevelopmental disorders, neuropsychiatric comorbidities, and cognitive delay have been reported in boys with dystrophinopathy including attention deficit hyperactivity disorder (12-33%), obsessive compulsive disorder (5%), anxiety/depression (25%), and social challenges.…”

Section: Introductionmentioning

confidence: 99%

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Ramani

Fawcett

Guntrum

et al. 2023

Child Neurology Open

Self Cite

View full text Add to dashboard Cite

Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations occur approximately in one-third of patients with dystrophinopathy. Epilepsy has been described. Here we report seizure and electroencephalographic features of boys with dystrophinopathy and epilepsy. This is a retrospective chart review of eight patients with dystrophinopathy and epilepsy seen at Arkansas Children's Hospital and University of Rochester Medical center. Six patients had DMD and two had BMD. Five patients had generalized epilepsy. Three patients had focal epilepsy and the seizures were intractable in two of them. Brain imaging was available for five patients and were within normal limits. EEG abnormalities were noted in six patients. Seizures were well controlled on the current antiepileptic medication regimen in all patients. Further research is needed to better elucidate the underlying mechanisms and genotype-phenotype correlations.

show abstract

Section: Introductionmentioning

confidence: 99%

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

Ramani

Fawcett

Guntrum

et al. 2023

Child Neurology Open

Self Cite

View full text Add to dashboard Cite

show abstract

“…The clinical spectrum of dystrophinopathy is comprised of Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked cardiomyopathy. 1 2 Pseudometabolic presentation of exercise-induced muscle cramps and myoglobinuria due to mutations in DMD gene is increasingly identified. 3 4 Here we describe a young boy with exercise-induced muscle cramps and rhabdomyolysis due to deletion in DMD gene.…”

mentioning

confidence: 99%