Treatable inherited rare movement disorders

Jinnah, Hyder A.; Albanese, Alberto; Bhatia, Kailash P.; Cardoso, Francisco; Prat, Gustavo Da; Koning, Tom J. de; Espay, Alberto J.; Fung, Victor S.C.; Ruiz, Pedro; Gershanik, Oscar S.; Jankovic, Joseph; Kaji, Ryuji; Kotschet, Katya; Marras, Connie; Miyasaki, Janis; Morgante, Francesca; Münchau, Alexander; Pal, Pramod Kumar; Rodriguez-Oroz, María C.; Rodríguez-Violante, Mayela; Schöls, Lüdger; Stamelou, María; Tijssen, Marina A. J.; Roca, Claudia Uribe; Cerda, Andres de la; Gatto, Emilia

doi:10.1002/mds.27140

Cited by 89 publications

(65 citation statements)

References 88 publications

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“…However, systematic approaches are lacking. Clinical, genetic, and radiological features that associate with movement disorders in LSD remain poorly understood, although many LSD are recognized as genetic causes of movement disorders and some are treatable . Here, we systematically investigate a large and well‐characterized cohort of patients with childhood‐onset LSD and provide a description of associated movement disorders.…”

mentioning

confidence: 99%

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Ebrahimi‐Fakhari

Hildebrandt

Davis

et al. 2018

Movement Disord Clin Pract

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mentioning

confidence: 99%

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Ebrahimi‐Fakhari

Hildebrandt

Davis

et al. 2018

Movement Disord Clin Pract

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“…While several disorders mentioned in the above resources are modifiable with specific interventions, we highlight those disorders in Table where a disease‐modifying intervention can cause significant improvement of movement disorders, plateauing of disease course, or complete remission. There are other treatable inborn errors of metabolism that may manifest with movement disorders in adulthood or may present with spastic diplegia or ataxia, which are discussed in comprehensive reviews …”

Section: Disease‐modifying and Disease‐specific Therapiesmentioning

confidence: 99%

Current therapies and therapeutic decision making for childhood‐onset movement disorders

2019

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Movement disorders differ in children to adults. First, neurodevelopmental movement disorders such as tics and stereotypies are more prevalent than parkinsonism, and second, there is a genomic revolution which is now explaining many early‐onset dystonic syndromes. We outline an approach to children with movement disorders starting with defining the movement phenomenology, determining the level of functional impairment due to abnormal movements, and screening for comorbid psychiatric conditions and cognitive impairments which often contribute more to disability than the movements themselves. The rapid improvement in our understanding of the etiology of movement disorders has resulted in an increasing focus on precision medicine, targeting treatable conditions and defining modifiable disease processes. We profile some of the key disease‐modifying therapies in metabolic, neurotransmitter, inflammatory, and autoimmune conditions and the increasing focus on gene or cellular therapies. When no disease‐modifying therapies are possible, symptomatic therapies are often all that is available. These classically target dopaminergic, cholinergic, alpha‐adrenergic, or GABAergic neurochemistry. Increasing interest in neuromodulation has highlighted that some clinical syndromes respond better to DBS, and further highlights the importance of “disease‐specific” therapies with a future focus on individualized therapies according to the genomic findings or disease pathways that are disrupted. We summarize some pragmatic applications of symptomatic therapies, neuromodulation techniques, and some rehabilitative interventions and provide a contemporary overview of treatment in childhood‐onset movement disorders. © 2019 International Parkinson and Movement Disorder Society

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“…In general, treatments for IEM may consist of specific dietary interventions, co‐factor or vitamin supplementation, enzyme replacement, small molecules, hematopoietic stem cell transplantation, and gene therapy. Many of these therapeutic strategies that apply to IEM with movement disorders have been outlined in a recent review by the Task Force on Rare Movement Disorders . These and others are summarized in Table .…”

Section: A Phenomenology‐based Approachmentioning

confidence: 99%

Movement Disorders in Treatable Inborn Errors of Metabolism

Ebrahimi‐Fakhari

Karnebeek²,

Münchau

2018

Movement Disorders

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There are several hundred single‐gene disorders that we classify as inborn errors of metabolism. Inborn errors of metabolism are often rare and highly heterogeneous multisystem diseases with non‐neurological and neurological manifestations, commonly with onset during childhood. Movement disorders are among the most common neurological problems in inborn errors of metabolism, but, in many cases, remain poorly defined. Although movement disorders are usually not the only and often not the presenting symptom, their recognition can facilitate a diagnosis. Movement disorders contribute substantially to the morbidity in inborn errors of metabolism and can have a significant impact on quality of life. Common metabolic movement disorders include the monoamine neurotransmitter disorders, disorders of amino and organic acid metabolism, metal storage disorders, lysosomal storage disorders, congenital disorders of autophagy, disorders of creatine metabolism, vitamin‐responsive disorders, and disorders of energy metabolism. Importantly, disease‐modifying therapies exist for a number of inborn errors of metabolism, and early recognition and treatment can prevent irreversible CNS damage and reduce morbidity and mortality. A phenomenology‐based approach, based on the predominant movement disorder, can facilitate a differential diagnosis and can guide biochemical, molecular, and imaging testing. The complexity of metabolic movement disorders demands an interdisciplinary approach and close collaboration of pediatric neurologists, neurologists, geneticists, and experts in metabolism. In this review, we develop a general framework for a phenomenology‐based approach to movement disorders in inborn errors of metabolism and discuss an approach to identifying the “top ten” of treatable inborn errors of metabolism that present with movement disorders—diagnoses that should never be missed. © 2018 International Parkinson and Movement Disorder Society

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Treatable inherited rare movement disorders

Cited by 89 publications

References 88 publications

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

The Spectrum of Movement Disorders in Childhood‐onset Lysosomal Storage Diseases

Current therapies and therapeutic decision making for childhood‐onset movement disorders

Movement Disorders in Treatable Inborn Errors of Metabolism

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