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Semin Neurol 2021; 41(03): 303-308
DOI: 10.1055/s-0041-1725153
Review Article

Hereditary Myelopathies

Melissa A. Walker 
1   Division of Child Neurology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
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Abstract

Hereditary myelopathies are an important and likely underappreciated component of neurogenetic disease. While previously distinctions have been made by age of onset, the growing power and availability of high-quality neuroimaging and next-generation sequencing are increasingly expanding classical phenotypes and diminishing the utility of age-based classifications. Increasingly, cases of “atypical” disease presentations are challenging past assumptions regarding the age of onset and survival in many disorders and identifying allelic syndromes in others. Despite this, there is poor awareness of the potential for spinal involvement in many diseases that typically affect the brain. Broadly speaking, congenital myelopathies can be neuroanatomically grouped into motor neuron, axonopathy, spinocerebellar, cerebroleukodystrophy, and pan-neuraxis (generally central nervous system predominant with associated axonopathy) disorders.

Here, we review hereditary causes of myelopathy, organized by neuroanatomy, and highlight atypical presentations. We discuss findings concerning an underlying genetic etiology for myelopathy, as well as practical, technical, and ethical considerations of diagnostic genetic testing.

Keywords

hereditary myelopathy - hereditary myelopathy - neurogenetic disease


Publication History

Article published online:
04 March 2021

© 2021. Thieme. All rights reserved.

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