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Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview

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Abstract

Muscular dystrophies encompass a wide and heterogeneous subset of hereditary myopathies that manifest by the structural or functional abnormalities in the skeletal muscle. Some pathogenic mutations induce a dysfunction or loss of proteins that are critical for the stability of muscle cells, leading to progressive muscle degradation and weakening. Several studies have well-established cognitive deficits in muscular dystrophies which are mainly due to the disruption of brain-specific expression of affected muscle proteins. We provide a comprehensive overview of the types of muscular dystrophies that are accompanied by intellectual disability by detailed consulting of the main libraries. The current paper focuses on the clinical and molecular evidence about Duchenne, congenital, limb-girdle, and facioscapulohumeral muscular dystrophies as well as myotonic dystrophies. Because these syndromes impose a heavy burden of psychological and financial problems on patients, their families, and the health care community, a thorough examination is necessary to perform timely psychological and medical interventions and thus improve the quality of life.

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Authors and Affiliations

  1. Cancer Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran, 616476515

    Malihe Mohamadian

  2. Department of Molecular Medicine, Birjand University of Medical Sciences, Birjand, Iran

    Mandana Rastegar

  3. Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran

    Negin Pasamanesh

  4. Department of Immunology, Medical School, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Ata Ghadiri

  5. Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Pegah Ghandil

  6. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

    Pegah Ghandil

  7. Cellular and Molecular Research Center, Birjand University of Medical Sciences, Birjand, Iran

    Mohsen Naseri

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M. Mohamadian and P. Ghandil designed the article contents. M. Mohamadian, M. Rastegr, and N. Parsamanesh wrote the original manuscript. A. Ghadiri and M. Naseri made revisions to the manuscript. All the authors discussed the results and contributed to the final manuscript.

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Mohamadian, M., Rastegar, M., Pasamanesh, N. et al. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. J Mol Neurosci 72, 9–23 (2022). https://doi.org/10.1007/s12031-021-01933-4

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