Advertisement

Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort

  • Author Footnotes
    1 ORCID: 0000-0003-1181-1418.
    Renato Oliveira
    Correspondence
    Corresponding author at: Hospital da Luz – Lisboa, Avenida Lusíada 100, 1500-650 Lisbon, Portugal.
    Footnotes
    1 ORCID: 0000-0003-1181-1418.
    Affiliations
    Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Department of Neurology, Hospital da Luz Lisboa, Lisbon, Portugal

    CHRC Comprehensive Health Research Centre, Universidade Nova de Lisboa, Lisbon, Portugal
    Search for articles by this author
  • Filipa Dourado Sotero
    Affiliations
    Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
    Search for articles by this author
  • Joana Coelho
    Affiliations
    Neuropediatrics Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
    Search for articles by this author
  • Rafael Roque
    Affiliations
    Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
    Search for articles by this author
  • Teresa Moreno
    Affiliations
    Neuropediatrics Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal
    Search for articles by this author
  • Miguel Oliveira Santos
    Affiliations
    Department of Neurology, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Department of Neurology, Hospital da Luz Lisboa, Lisbon, Portugal

    Institute of Physiology, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal
    Search for articles by this author
  • Author Footnotes
    1 ORCID: 0000-0003-1181-1418.

      Highlights

      • Clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown.
      • We report a case series with 9 patients from SSA.
      • All patients had the diagnosis of muscular dystrophy.
      • The inherited myopathies in this cohort were the same found in western world.

      Abstract

      The clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown but likely underdiagnosed due to problems of scientific research and social issues. We report a case series of patients born in SSA, evacuated to Portugal through an international health protocol and seen at a single neuromuscular disorders centre, between January/2004 and August/2021. We identified 9 patients (5 males), 35.6 ± 19.3 years-old (10–64), from Cape Verde (n = 4), Angola (n = 2), Sao Tome and Principe (n = 2) and Guinea-Bissau (n = 1), with a delay in diagnosis of 19.7 ± 14.3 years. Seven patients (77.8 %) had positive family history. Most patients had significant morbidity, requiring wheelchair (55.6 %), and nocturnal non-invasive ventilation (55.6 %). The diagnosis included Bethlem myopathy (n = 2), Duchenne muscular dystrophy (n = 2), Emery-Dreifuss muscular dystrophy (n = 1), LGMDR1 (n = 2), LGMDR2 (n = 1), and type-1 myotonic dystrophy (n = 1). Genetic testing was remarkable for 3 mutations previously not described. Despite the small sample, the spectrum of hereditary myopathies in our cohort is like western studies. Further studies are needed to better understand the epidemiology of muscle diseases in SSA.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Journal of Clinical Neuroscience
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Tekle-Haimanot R.
        • Ngoungou E.B.
        • Kibru D.
        Epidemiology of neurological disorders in Sub-Saharan Africa.
        in: Neuroepidemiology in tropical health. Elsevier, 2018: 129-141https://doi.org/10.1016/B978-0-12-804607-4.00010-1
        • Howlett W.P.
        Neurology in Africa.
        Neurology. 2014; 83: 654-655https://doi.org/10.1212/WNL.0000000000000682
        • Chinniah K.J.
        • Mody G.M.
        The spectrum of idiopathic inflammatory myopathies in South Africa.
        Clin Rheumatol. 2021; 40: 1437-1446https://doi.org/10.1007/s10067-020-05048-w
        • Quansah E.
        • Karikari T.K.
        Motor neuron diseases in Sub-Saharan Africa: the need for more population-based studies.
        Biomed Res Int. 2015; 2015: 1-9https://doi.org/10.1155/2015/298409
        • Oliveira Santos M.
        • Ninitas P.
        • Conceição I.
        Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
        Neuromuscul Disord. 2018; 28: 1003-1005https://doi.org/10.1016/j.nmd.2018.09.009
        • Ballo R.
        • Viljoen D.
        • Beighton P.
        Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected.
        S Afr Med J. 1994; 84: 494-497
        • Müller K.I.
        • Ghelue M.V.
        • Lund I.
        • Jonsrud C.
        • Arntzen K.A.
        The prevalence of hereditary neuromuscular disorders in Northern Norway.
        Brain Behav. 2021; 11https://doi.org/10.1002/brb3.1948
        • Cardamone M.
        • Darras B.
        • Ryan M.
        Inherited myopathies and muscular dystrophies.
        Semin Neurol. 2008; 28: 250-259https://doi.org/10.1055/s-2008-1062269
        • Kvalsund M.
        • Mukomena P.
        • Chidumayo T.
        • Birbeck G.L.
        • Andary M.
        • Horner M.
        • et al.
        Electrodiagnostic consultations in Zambia: Referral characteristics and neuromuscular disorders.
        J Neurol Sci. 2019; 397: 150-154
        • Siddiqi O.K.
        • Atadzhanov M.
        • Birbeck G.L.
        • Koralnik I.J.
        The spectrum of neurological disorders in a Zambian tertiary care hospital.
        J Neurol Sci. 2010; 290: 1-5https://doi.org/10.1016/j.jns.2009.12.022
        • Esterhuizen A.I.
        • Greenberg L.J.
        • Ballo R.
        • Goliath R.G.
        • Wilmshurst J.M.
        Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?.
        S Afr Med J. 2016; 106: 67https://doi.org/10.7196/SAMJ.2016.v106i6.10999
        • Dekker M.C.J.
        • Tieleman A.A.
        • Igogo O.J.
        • van Duyvenvoorde H.A.
        • Howlett W.P.
        • Hamel B.C.
        First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features.
        Neuromuscul Disord. 2019; 29: 317-320https://doi.org/10.1016/j.nmd.2019.01.006
        • Amin M.
        • Bakhit Y.
        • Koko M.
        • et al.
        Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.
        Acta Myol. 2019; 38: 21-24
        • Bower J.H.
        • Diop A.G.
        • Gouider R.
        • Schmutzhard E.
        Addressing neurologic needs in sub-Saharan Africa: An opportunity for multisociety cooperation.
        Neurology. 2014; 83: 1207-1209https://doi.org/10.1212/WNL.0000000000000810
      1. Singhal BS, Khadilkar SV. Neurology in the developing world. In: Handbook of clinical neurology. Vol 121. Elsevier; 2014:1773-1782. doi:10.1016/B978-0-7020-4088-7.00114-0.

      2. Bos ER, Jamison DT, Bainga F, et al., eds. Disease and mortality in Sub-Saharan Africa: Second edition. The World Bank; 2006. doi:10.1596/978-0-8213-6397-3.

        • Khedr E.M.
        • Fawi G.
        • Abbas M.A.-A.
        • et al.
        Prevalence of neuromuscular disorders in Qena governorate/Egypt: population-based survey.
        Neurol Res. 2016; 38: 1056-1063https://doi.org/10.1080/01616412.2016.1243640