Kinesigenic paroxysmal hemidyskinesia as the initial presentation of multiple sclerosis

Yara Dadalti Fragoso1, Mauro Gomes Araujo, Nilton Luiz Branco

  • 1Head, Department of Neurology, Universidade Metropolitana de Santos, SP, Brazil;

Insights

Paroxysmal kinesigenic hemidyskinesia (PKD) is a rare initial symptom in multiple sclerosis (MS). This study details two cases of MS presenting with PKD, highlighting distinct lesion locations on MRI scans.

Area of Science:

  • Neurology
  • Neuroimmunology
  • Movement Disorders

Background:

  • Multiple sclerosis (MS) is a chronic autoimmune disease affecting the central nervous system.
  • Paroxysmal dystonia is a rare neurological manifestation in MS patients.
  • Paroxysmal kinesigenic hemidyskinesia (PKD) is exceptionally uncommon as an initial presenting symptom in MS.

Observation:

  • This report describes two patients who presented with PKD as the first neurological symptom of MS.
  • One patient was diagnosed at age 18, the other at age 35.
  • Both patients exhibited distinct patterns of acute lesions on magnetic resonance imaging (MRI) associated with their PKD.

Findings:

  • The study identified specific MRI lesion locations in the subcortical parietal area, thalamus, and cervical spinal cord in relation to PKD in MS.
  • The findings suggest a potential correlation between specific lesion sites and the manifestation of PKD in early-stage MS.
  • These cases expand the understanding of the diverse clinical presentations of MS.

Implications:

  • Recognizing PKD as a potential initial symptom can aid in the early diagnosis of MS.
  • Understanding the neuroanatomical correlates of PKD in MS may inform future research into MS pathogenesis and treatment.
  • This case series contributes to the literature on rare movement disorders in the context of multiple sclerosis.

Related Concept Videos

Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of its...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...