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

Abstract

<jats:title>Abstract</jats:title><jats:p>Dystrophinopathies are a group of X-linked neuromuscular disorders resulting from mutations in DMD gene that encodes dystrophin. The clinical spectrum includes Duchenne muscular dystrophy, Becker muscular dystrophy, X-linked cardiomyopathy, and intellectual disability without involvement of skeletal muscle. Cognitive and behavioral problems are commonly seen among patients with dystrophinopathy. DMD gene is the largest human gene, consisting of 79 exons that produce dystrophin protein. Patients with genetic changes involving shorter dystrophin isoforms such as Dp140 and Dp71 are suggested to have higher rates of intellectual disability, attention-deficit/hyperactivity disorder, and other neuropsychiatric comorbidities. We describe three brothers who presented with prominent neurobehavioral deficits of varying degree, mild proximal weakness, and elevated serum creatine kinase due to a rare nonsense mutation, c.1702C &gt; T; p.Gln568X, in exon 14 of DMD gene. Further studies are needed to better understand the effects of this rare mutation.</jats:p>

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies

“…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.…”

Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation

“…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.…”