Dystonia
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Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements and postures. It is caused by excessive force in the primary muscles used for movement along with overflow activation of additional muscles. Dystonia can have various etiologies and is often initiated or worsened by voluntary action. Treatment may involve botulinum toxin injections to reduce muscle overactivity.
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Dystonia
Dystonia
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements.
The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia) or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of day-to-day tasks.
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Friedreich's Ataxia
Background
What Causes Friedreich’s Ataxia?
Inheritance
Friedreich Ataxia Treatment & Management
Diagnosed
Treatment
Dystonia
Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that cause abnormal, repetitive movements or postures. It results from abnormalities in the basal ganglia region of the brain that controls movement. Dystonia can affect people of all ages and ethnicities. Symptoms may include twisting, repetitive motions, or abnormal positions of the arms, legs, trunk, face or vocal cords. It can be classified by age of onset, affected body areas, and underlying cause (primary/secondary). Treatment involves botulinum toxin injections, medications, physiotherapy, and sometimes surgery to interrupt pathways in the nervous system responsible for the abnormal movements.
Friedreich’s Ataxia
FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
Approach to dystonia
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The pathophysiology of dystonia is not well understood, but it involves excessive co-contraction of antagonist muscles produced by abnormal synchronization of presynaptic inputs to antagonist motor neuron pools, as well as overflow of contraction to adjacent muscles and paradoxical contraction of passively shortened muscles. Treatment options include oral medications, botulinum toxin injections, surgeries such as deep brain stimulation, and other supportive therapies. Diagnosis can be challenging given the heterogeneous nature and varied etiologies of dystonia.
Cerebellar ataxia
The document discusses cerebellar ataxia, a disorder caused by damage to the cerebellum that controls coordination. It causes loss of coordination, balance problems, and slurred speech. The cerebellum coordinates muscle movement and is located in the hindbrain. Causes include viruses, alcohol, tumors, and toxins. Symptoms are diagnosed through neurological exams, imaging scans, and lab tests. Treatment focuses on physical therapy, assistive devices, and treating any underlying causes to ease symptoms and improve quality of life. Prevention involves vaccinations to reduce risk of viral infections that can lead to cerebellar ataxia.
Athetosis and dystonia
This document discusses athetosis and dystonia. It defines athetosis as irregular, slow writhing movements, often of the extremities and fingers. Dystonia is defined as an abnormal sustained muscle contraction causing twisting movements and abnormal postures. The document describes the clinical presentations and patterns of movement seen in athetosis. It discusses the potential pathophysiology of athetosis involving lesions in the frontal lobes, parietal lobes, and putamen. Causes of athetosis in children and adults are provided. Dystonia is similarly defined and classified. Potential pathology, types, hereditary forms, and secondary causes of dystonia are outlined in detail.
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Dystonia
Dystonia
Dystonia is a movement disorder in which your muscles contract involuntarily, causing repetitive or twisting movements.
The condition can affect one part of your body (focal dystonia), two or more adjacent parts (segmental dystonia) or all parts of your body (general dystonia). The muscle spasms can range from mild to severe. They may be painful, and they can interfere with your performance of day-to-day tasks.
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia: Causes, Types, Symptoms, and Treatments
Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
Friedreich's Ataxia
Background
What Causes Friedreich’s Ataxia?
Inheritance
Friedreich Ataxia Treatment & Management
Diagnosed
Treatment
Dystonia
Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that cause abnormal, repetitive movements or postures. It results from abnormalities in the basal ganglia region of the brain that controls movement. Dystonia can affect people of all ages and ethnicities. Symptoms may include twisting, repetitive motions, or abnormal positions of the arms, legs, trunk, face or vocal cords. It can be classified by age of onset, affected body areas, and underlying cause (primary/secondary). Treatment involves botulinum toxin injections, medications, physiotherapy, and sometimes surgery to interrupt pathways in the nervous system responsible for the abnormal movements.
Friedreich’s Ataxia
FA is a very rare, genetic, recessive disease, affecting 1/50,000 people.
Originates from mutations in the “coding” of the mitochondria.
Discovered by Nicholaus Friedreich in the early 1860’s.
Both parents must have the dominant trait for a 25% chance of an offspring possessing the disease.
Not necessarily a disease that kills you, but eventually a wheelchair and regular assistance will be required.
Onset before age 20-25 year.
Approach to dystonia
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The pathophysiology of dystonia is not well understood, but it involves excessive co-contraction of antagonist muscles produced by abnormal synchronization of presynaptic inputs to antagonist motor neuron pools, as well as overflow of contraction to adjacent muscles and paradoxical contraction of passively shortened muscles. Treatment options include oral medications, botulinum toxin injections, surgeries such as deep brain stimulation, and other supportive therapies. Diagnosis can be challenging given the heterogeneous nature and varied etiologies of dystonia.
Cerebellar ataxia
The document discusses cerebellar ataxia, a disorder caused by damage to the cerebellum that controls coordination. It causes loss of coordination, balance problems, and slurred speech. The cerebellum coordinates muscle movement and is located in the hindbrain. Causes include viruses, alcohol, tumors, and toxins. Symptoms are diagnosed through neurological exams, imaging scans, and lab tests. Treatment focuses on physical therapy, assistive devices, and treating any underlying causes to ease symptoms and improve quality of life. Prevention involves vaccinations to reduce risk of viral infections that can lead to cerebellar ataxia.
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This document discusses athetosis and dystonia. It defines athetosis as irregular, slow writhing movements, often of the extremities and fingers. Dystonia is defined as an abnormal sustained muscle contraction causing twisting movements and abnormal postures. The document describes the clinical presentations and patterns of movement seen in athetosis. It discusses the potential pathophysiology of athetosis involving lesions in the frontal lobes, parietal lobes, and putamen. Causes of athetosis in children and adults are provided. Dystonia is similarly defined and classified. Potential pathology, types, hereditary forms, and secondary causes of dystonia are outlined in detail.
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The document discusses the definition, classification, features, and pathophysiology of dystonia. It is classified based on age of onset, distribution, and etiology. Primary dystonias have no known underlying brain lesion and can be hereditary or idiopathic in nature, while secondary dystonias have an identifiable cause such as drugs, toxins, or other neurological conditions. The pathophysiology of primary dystonias involves subtle changes in neuronal signaling and communication in basal ganglia circuits that lead to abnormal patterns of muscle contraction.
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This document discusses cerebellar ataxia, which is a lack of muscle coordination caused by dysfunction of the cerebellum. It classifies ataxia into hereditary, non-hereditary degenerative, and acquired types. Hereditary ataxia includes autosomal dominant, autosomal recessive, and X-linked forms. Common symptoms are gait instability, limb incoordination, slurred speech, and eye movement abnormalities. Diagnosis involves testing for genetic mutations, imaging the brain, and checking for metabolic deficiencies. Treatment aims to reduce symptoms and improve coordination through medications, physical therapy, and assistive devices.
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2. Ballismus involves proximal, flinging, violent involuntary movements. Both chorea and ballismus are associated with basal ganglia dysfunction and abnormal neurotransmitter levels like decreased GABA and increased dopamine.
3. Causes of chorea and ballismus include infections, metabolic and endocrine disorders, drugs, trauma, vascular events, tumors, and hereditary conditions like Huntington's disease. Treatment involves reducing dopamine levels with antipsychotics or GABA agonists, as well as surgical procedures like pallidotomy or thalamotomy
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Myoclonus is characterized by brief, involuntary muscle contractions or inhibitions. It can be classified anatomically based on its physiological origin in the cortex, subcortex, or periphery. Clinically, myoclonus is classified as physiological, essential, epileptic, or secondary. Treatment involves addressing the underlying cause, with anti-seizure medications often used for cortical or cortical-subcortical myoclonus, and benzodiazepines or botulinum toxin injections for other types.
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Dystonia
- 1. Ade Wijaya, MD – November 2019 Dystonia - An Overwiew-
- 2. Introduction Movement Disorder Over-activity of muscles needed for movement Dystonic movements are often slow, but they sometimes may be rapid or jerky Fahn S. The varied clinical expressions of dystonia. Neurol Clinics. 1984;2:541–554. Fahn S. Clinical variants of idiopathic torsion dystonia. J Neurol Neurosurg Psychiatry. 1989;(Suppl):96–100.
- 3. Definition Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both. Dystonic movements are typically patterned, twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013;28:863–873.
- 4. Pathophysiology Excessive force in the primary muscles used for a movement Overflow activation of additional muscles that are not required for a movement Co-activation of muscles that antagonize the primary muscles Jinnah, H. A., & Factor, S. A. (2015). Diagnosis and treatment of dystonia. Neurologic clinics, 33(1), 77-100.
- 5. Classification Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord. 2013;28:863–873.
- 6. Etiology Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of the patient with dystonia: An update on dystonia syndromes. Mov Disord. 2013;28:889–898.
- 7. Algorhytm Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of the patient with dystonia: An update on dystonia syndromes. Mov Disord. 2013;28:889–898.
- 8. Medications Jinnah, H. A., & Factor, S. A. (2015). Diagnosis and treatment of dystonia. Neurologic clinics, 33(1), 77-100.
- 9. Summary Movement disorder Muscle overactivity Various etiology Botulinum toxin
- 10. THANK YOU