Hypokinetic Movement Disorders
0 The predominant picture in this group of diseases is decreased, slowed and difficult movements.
0 The prototype of this group is Parkinson's syndrome.
0 Bradykinesia: Difficulty in initiating movements, slowness and difficulty in execution, general impoverishment of movements.
0 Mask face: It is the slowing down of mimic expression.
0 Decreased blink
0 Postural disorder: Usually in the form of flexion posture.
0 Rigidity: It refers to the increase in muscle tone, which manifests itself as a continuous resistance, which occurs due to simultaneous contraction of the agonist and antagonist muscles.
Idiopathic Parkinson's Disease
It is the loss of pigmented nuclei in the substantia nigra and the detection of spherical inclusion bodies containing proteins called alpha-synuclein and ubiquitin, called Lewy bodies. It occurs on average between 50-60 years of age.
Key findings
1. Resting tremor (typical, counting money)
2. Gear wheel rigidity
3. Bradykinesia
4. Mask face
5. Loss of postural reflexes
6. Reduction in blink rate
7. Walking with small steps
8. Hypovolemic voice
9. Keeping Walking
10. Falling backwards
11. Flexion posture
12. Oculogical crisis
• There is no medulla spinalis involvement.
• NO increase in deep tendon reflexes Pathology
• Loss of pigmented dopaminergic neurons in the substantia nigra
•Intraneuronal deposition of hyaline material {Lewy body)
• Degeneration in locus serulous neurons
• Decreased dopaminergic output from the substantia nigra to globus pallidus
• Loss of inhibitory activity on the subthalamic nucleus
Treatment
1. Levodopa (L-DOPA)
It is the primary drug in the treatment of Parkinsonism.
It is largely destroyed in the periphery, so it is used together with peripheral dopa decarboxylase inhibitors (carbidopa + benserazide).
Side effects:
Dyskinesia: It is the main limiting factor in treatment. It can be prevented by pallidotomy.
Akinesia: Decreased voluntary movements for a few minutes or hours.
Other side effects: Precipitation of acute glaucoma attack with psychosis, nausea-vomiting, postural hypotension and mydriasis.
Contraindications:
Psychotic illnesses
Narrow-angle glaucoma
Peptic ulcer
Malignant melanoma
2. Anticholinergics:
Tremor is very effective.
Biperiden, bornaprine, trihexyphenidyl
3. Dopamine agonists
Bromocriptine, pramipexole, lisuride, pergolide, ropinirole, apomorphine
4. Other drugs:
MAO-B inhibitor (selegiline, rasagiline) COMT inhibitor (entacapone, tolcapone)
On-off phenomenon: The on-off phenomenon is called when a patient who can do all his movements due to drug treatment or the progression of the disease suddenly becomes unable to move or the opposite occurs.
Parkinson Plus Syndromes
The common feature of these diseases is the addition of other findings in addition to the classical findings of Parkinson's syndrome.
1. Multisystem atrophy (MSA):
Accompanying extrapyramidal, cerebellar and autonomic findings
a. Olivopontocerebellar atrophy (MSA-C): Cerebellar and pons findings
b. Striatonigral degeneration (MSA-P): Typically no response to dopamine, bowing of the head
c. Shy-Drager syndrome: Autonomic signs are evident (hypotension)
2. Progressive supranuclear paralysis
Subcortical type dementia, early balance disorder, bulbar involvement, diplopia due to gaze palsy and symmetrical rigidity can be seen.
3. Corticobasal degeneration
Asymmetric limb findings (typically apraxia, myoclonus) and extrapyramidal findings
4. Dementia with Lewy bodies
It is characterized by extrapyramidal findings and visual hallucinations.
5. Guam's Parkinson-dementia-amyotrophic lateral sclerosis complex
Hyperkinetic Movement Disorders
The common feature of movement disorders in this group is that involuntary, spontaneous movements dominate the picture.
dystonia
• Dystonia is a movement disorder characterized by involuntary, continuous, twisting and rotating muscle contractions, causing repetitive involuntary movements or temporary or permanent abnormal postures.
• It occurs with simultaneous contraction of agonist and antagonist muscles during voluntary movement.
• Blepharospasm, torticollis are examples.
• Meige syndrome is blepharospasm accompanied by oromandibular dystonia.
It is divided into two according to etiology;
Primary (idiopathic)
Secondary (Symptomatic) Dystonias
• Any central nervous system pathology involving the basal ganglia and its connections, such as cerebrovascular diseases, infections, demyelinating, metabolic and congenital diseases, trauma, intoxication, may cause symptomatic dystonia.
• Wilson's disease is important in that it is one of the most common causes of symptomatic dystonia and is treatable.
Wilson's Disease
• It is autotosomal recessive and is in the long arm of chromosome 13. There is a defect in the ATPase enzyme.
• It is a congenital defect of copper metabolism.
• The excessive excretion of copper after the liver mainly affects the brain, kidney and cornea. The liver is most commonly involved.
• Basal ganglia findings are dominant in neurological findings, sometimes cerebellar findings are encountered.
• Giant astrocytes known as Alzheimer's cells are encountered in microscopic studies.
• Deposits in the cornea form the Kayser-Fleischer ring.
• Serum ceruloplasmin level may be low and serum free copper level may be high. However, there are cases where both parameters are normal. In almost all patients, 24-hour urinary copper excretion is almost always increased, which is a more sensitive measurement than the other two.
• Tremor and rigidity dystonia, akinesia findings may be seen.
• This tremor, which is common in the arms, is known as "wing flapping tremor".
• In symptomatic dystonias, treatment is directed towards the cause.
• In idiopathic dystonias, anticholinergic, antidopaminergic, baclofen, benzodiazepine group drugs and botulinum toxin are used according to the type of dystonia.
Korea and Ballism
• Chorea : Arrhythmic, jumping, complex are small-amplitude involuntary movements involving the distal extremities.
• Ballism: It is a large amplitude chorea involving the proximal extremity. Choreic and ballistic movements originate from the putamen, globus pallidus, and subthalamic nucleus.
Huntington's Disease
It starts at the age of 40-50 years.
There are autosomal dominant, trinucleotide repeats (CAG).
Sydenham Korea
It is one of the major criteria of ARA. It may extend up to 6 months after the infection history. It is common between the ages of 5-15. It is more common in girls. 0KB may be accompanied by learning difficulties and hyperactivity.
neuroacanthocytosis
Neuroacanthocytosis is a rare neurodegenerative disease accompanied by rich neurological findings such as chorea, dystonia, parkinsonism, and motor tics. If the number of acanthocytes in the peripheral smear is more than 15%, the diagnosis is made. In the treatment of chorea-ballism, dopamine receptor blockers and drugs that empty preesinaptin dopamine stores are used.
Tics
Gilles de la Tourette syndrome:
Tourette's syndrome is a tic disorder characterized by involuntary movements and verbal responses.
The most obvious first symptoms are facial tics in the form of blinking and grimacing.
It is more common in males.
Obsessive compulsive disorder is frequently associated with attention deficit and hyperactivity disorder.
However, it can also be associated with depression, anxiety disorders, and impulse disorders.
Findings required for diagnosis according to DSM 5;
Both multiple motor tics and vocal tics (such as purring, throat clearing, shouting a word)
Tics must be at least 1 year
The tics should occur every day or even several times a day.
Tics should begin before the age of 18.
It should not be caused by other diseases.
Motor tics:
Simple motor tics: These are short, rapid movements that involve one or more muscle groups. Examples include blinking, shrugging, and extremity extension.
Complex motor tics: Relatively coordinated, sequential or simultaneous movements that may be directed towards a specific purpose:
Hair brushing
Touching the foot
Imitating the actions of others (ecopraxia)
Obscene - sexual - gestures (copropraxia)
Vocal tics:
Simple vocal tics: Single, meaningless sounds such as throat clearing, sniffing, coughing.
Complex vocal tics: They are meaningful words.
partial syllables
Coprolalia (cursing)
Echolalia (imitation of sounds and words heard)
Palilali (imitation of the last syllable or word spoken by himself)
restless legs syndrome
• It is the occurrence of strange sensations such as numbness, burning, stinging, pins and needles in the lower extremities shortly after lying down.
• Complaints that improve temporarily when the patient gets up and walks
• Associated with iron deficiency and low ferritin level
• Uremic neuropathy and folate deficiency
• L-dopa, benzodiazepines, codeine in treatment
Ataxias
It is defined as movement coordination disorder.
Friedreich's ataxia
Autosomal recessive
Symptoms begin before the age of 10.
The gene encoding the frataxin protein has trinucleotide repeats.
The first symptom is gait ataxia.
Skeletal anomalies such as scoliosis, pes cavus and slanting finger accompany.
Cardiomyopathy, the most common cause of death, is present in 50% of cases.
Romberg positive
Speech becomes limp and distorted.
Mental state is preserved.
DTRs are lost. Babinski is positive.
Decreased sensation of pain and temperature.
Sphincters are generally preserved.
Refsum's disease:
O.R. disease
High phytanic acid level in the blood at diagnosis
Characterized by retinitis pigmentosa, cerebellar ataxia, neuropathy
Cardiomyopathy, deafness
Anosmia, night blindness
All types of sense are reduced.
Ataxia telangiectasia
It begins with postural instability and ataxia in the first year of life. p Oculocutaneous telangiectasia begins at 3-6 years of age and spreads throughout the body.
There is an increased risk of hematological malignancies.
Serum AFP increased, whereas serum immunoglobulins decreased.
Trinucleotide repeat diseases
1. Myotonic dystrophy
2. Huntington's disease
3. Fragile-X syndrome
4. Friederich's ataxia
5. Kennedy's disease