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dc.contributor.authorMarsden, Jonathan
dc.contributor.authorBunn, Lisa
dc.contributor.authorDenton, Amanda
dc.contributor.authorPadmakumari Sivaraman Nair, K
dc.contributor.editorPandyan A
dc.contributor.editorHermens H
dc.contributor.editorConway B
dc.descriptionBook Chapter

This chapter will explore the impact of spasticity and associated symptoms in hereditary myelopathies with a particular focus on Hereditary Spastic Paraparesis (HSP). Hereditary myelopathies include syndromes with a genetic cause that involves spinal cord structures. To a variable extent they will have upper motor neuron (UMN) symptoms of spastic paraparesis. Importantly in the majority of cases structures outside the spinal cord are affected resulting in a diversity of symptom presentation. Four main clinical groups can be distinguished 1 . 1. Distal Axonopathies of the spinal cord eg HSP 2. Spinocerebellar Degenerations eg Spinocerebellar ataxia3 (SCA3), Late onset Freidreich’s ataxia, 3. Motor Neuron Disorders eg Familial Amyotrophic lateral sclerosis 4. Inborn errors of metabolism eg Adrenomyeloneuropathy, Biotinidase deficiency, Cerbrotendinous xanthomatosis ,Glycogenosis type IV, Krabbe’s disease Metachromatic leucodystrophy and Phenyl Ketoneuria, Based on clinical presentation alone it can be often quite difficult to distinguish between conditions. People with the complex forms of HSP, for example, can have cerebellar signs and mimic the presentation seen in spinocerebellar ataxias. Similarly spinocerebellar ataxias such as SCA3 (Machado-Joseph disease) can present with significant spasticity and mimic HSP3 . Adrenomyeloneuropathy can sometimes mimic HSP 4-7 . An example of the clinical presentation and management from each clinical group of hereditary myelopathies will be described. The level of understanding of the underlying genetics can vary between the different hereditary myelopathies and this will be briefly described. Further, the hereditary myelopathies can have quite diverse additional symptoms and pharmacological and rehabilitation management which will be described with a particular emphasis placed on evidence for the management of spasticity and the upper motor neuron syndrome and its impact on functional ability.

dc.publisherTaylor Francis
dc.relation.ispartofNeurological rehabilitation: Spasticity and Contractures in Clinical Practice and Research
dc.titleHereditary spastic paraparesis and other hereditary myelopathies
plymouth.organisational-group/Plymouth/Faculty of Health
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plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA
plymouth.organisational-group/Plymouth/REF 2021 Researchers by UoA/UoA03 Allied Health Professions, Dentistry, Nursing and Pharmacy
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dc.rights.embargoperiodNot known
rioxxterms.typeBook chapter

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