[Central manifestations of dystrophinopathies]

Abstract

The dystrophin gene involved in Duchenne and Becker muscular dystrophy is expressed in three main tissues resulting in clinical manifestations: skeletal muscle, heart and central nervous system. The 6 different existing dystrophins in the brain may play a role in the maturation and plasticity of neuronal synapses in particular by their functions in clustering and stabilization of different receptors at the post synaptic membrane. The possibility of an intellectual deficiency in Duchenne muscular dystrophy is known from the original description by Duchenne himself. Current data are in line with a constant cognitive impairment with a Gaussian curve shifted intellectual quotient (IQ) at -1 standard deviation from the standard population with an average IQ around 80. Clinical manifestations suggestive of a central nervous system involvement can affect all dystrophinopathies, including isolated central presentations without myopathic sign. The phenotypic spectrum appears broader and more subtle than non specific intellectual deficiency. The isolated or shared involvement of specific cognitive functions is possible (memory functions, executive functions, attention) with or without intellectual deficiency. Autism spectrum disorders are also among the encountered events. In clinical practice, it seems worth to ask for a measurement of serum creatine kinase (CK) in these different situations, keeping in mind that pure forms of central dystrophinopathies with a normal CK level have been recently reported.