Dystonia

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Dystonia
Dystonia2010.JPG
A person with medication-induced dystonia
Specialty Neurology
Complications physical disabilities (contractures, torticollis), [1] pain and fatigue [2]
Causeshereditary (DYT1); birth injury; head trauma; medication; infection; toxins
Diagnostic method genetic testing, electromyography, blood tests, MRI or CT scan
Treatmentmedication, physical therapy, botulinum toxin injection, deep brain stimulation
Medication anticholinergics, dopamine agonists

Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. [3] The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles. [4]

Contents

The disorder may be hereditary or caused by other factors such as birth-related or other physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to pharmaceutical drugs, particularly neuroleptics, [3] or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation.

Classification

There are multiple types of dystonia, and many diseases and conditions may cause dystonia.

Dystonia is classified by:

  1. Clinical characteristics such as age of onset, body distribution, nature of the symptoms, and associated features such as additional movement disorders or neurological symptoms, and
  2. Cause (which includes changes or damage to the nervous system and inheritance). [4]

Physicians use these classifications to guide diagnosis and treatment.

Types

Generalized dystonias

For example, dystonia musculorum deformans (Oppenheim, Flatau-Sterling syndrome): [6]

Also known as torsion dystonia or idiopathic torsion dystonia (old terminology "dystonia musculorum deformans").

Focal dystonias

These most common dystonias are typically classified as follows:

NameLocationDescription
Anismus muscles of the rectum Causes painful defecation, constipation; may be complicated by encopresis or fecal incontinence.
Cervical dystonia (spasmodic torticollis)muscles of the neck Causes the head to rotate to one side, to pull down towards the chest, or back, or a combination of these postures.
Blepharospasm muscles around the eyes The patient experiences rapid blinking of the eyes or even their forced closure causing functional blindness.
Oculogyric crisis muscles of eyes and headAn extreme and sustained (usually) upward deviation of the eyes often with convergence causing diplopia (double vision). It is frequently associated with backward and lateral flexion of the neck and either widely opened mouth or jaw clenching. Frequently a result of antiemetics such as the neuroleptics (e.g., prochlorperazine) or metoclopramide. Can be caused by Chlorpromazine.
Oromandibular dystonia muscles of the jaw and muscles of tongue Causes distortions of the mouth and tongue.
Spasmodic dysphonia/Laryngeal dystonia muscles of larynx Causes the voice to sound broken, become hoarse, sometimes reducing it to a whisper.
Focal hand dystonia (also known as musician's or writer's cramp).single muscle or small group of muscles in the handIt interferes with activities such as writing or playing a musical instrument by causing involuntary muscular contractions. The condition is sometimes "task-specific", meaning that it is generally apparent during only certain activities. Focal hand dystonia is neurological in origin and is not due to normal fatigue. The loss of precise muscle control and continuous unintentional movement results in painful cramping and abnormal positioning that makes continued use of the affected body parts impossible.

The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige's syndrome.

Genetic/primary

Symbol OMIM Gene Locus Alt Name
DYT1 128100 TOR1A 9q34 Early-onset torsion dystonia
DYT2 224500 HPCA 1p35-p34.2 Autosomal recessive primary isolated dystonia
DYT3 314250 TAF1 Xq13 X-linked dystonia parkinsonism
DYT4 128101 TUBB4 [7] 19p13.12-13 Autosomal dominant whispering dysphonia
DYT5a 128230 GCH1 14q22.1-q22.2 Autosomal dominant dopamine-responsive dystonia
DYT5b 191290 TH 11p15.5 Autosomal recessive dopamine-responsive dystonia
DYT6 602629 THAP1 8p11.21 Autosomal dominant dystonia with cranio-cervical predilection
DYT7 602124 unknown 18p (questionable) Autosomal dominant primary focal cervical dystonia
DYT8 118800 MR1 2q35 Paroxysmal nonkinesigenic dyskinesia
DYT9 601042 SLC2A1 1p35-p31.3 Episodic choreoathetosis/spasticity (now known to be synonymous with DYT18)
DYT10 128200 PRRT2 16p11.2-q12.1 Paroxysmal kinesigenic dyskinesia
DYT11 159900 SGCE 7q21 Myoclonic dystonia
DYT12 128235 ATP1A3 19q12-q13.2 Rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood
DYT13 607671 unknown, near D1S2667 [8] 1p36.32-p36.13 Autosomal dominant cranio-cervical/upper limb dystonia in one Italian family
DYT14 See DYT5
DYT15 607488 unknown 18p11 [9] Myoclonic dystonia not linked to SGCE mutations
DYT16 612067 PRKRA 2q31.3 Autosomal recessive young onset dystonia parkinsonism
DYT17 612406 unknown, near D20S107 [10] 20p11.2-q13.12 Autosomal recessive dystonia in one family
DYT18 612126 SLC2A1 1p35-p31.3 Paroxysmal exercise-induced dyskinesia
DYT19 611031 probably PRRT2 16q13-q22.1 Episodic kinesigenic dyskinesia 2, probably synonymous with DYT10
DYT20 611147 unknown 2q31 Paroxysmal nonkinesigenic dyskinesia 2
DYT21 614588 unknown 2q14.3-q21.3 Late-onset torsion dystonia
DYT24 610110 ANO3 [11] 11p14.2 Autosomal dominant cranio-cervical dystonia with prominent tremor

There is a group called myoclonic dystonia where some cases are hereditary and have been associated with a missense mutation in the dopamine-D2 receptor. Some of these cases have responded well to alcohol. [12] [13]

Other genes that have been associated with dystonia include CIZ1, GNAL, ATP1A3, and PRRT2. [14] Another report has linked THAP1 and SLC20A2 to dystonia. [15]

Signs and symptoms

Hyperglycemia-induced involuntary movements, which, in this case, did not consist of typical hemiballismus but rather of hemichorea (dance-like movements of one side of the body; initial movements of the right arm in the video) and bilateral dystonia (slow muscle contraction in legs, chest, and right arm) in a 62-year-old Japanese woman with type 1 diabetes

Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, in particular on movement. Many individuals with the condition have continuous pain, cramping, and relentless muscle spasms due to involuntary muscle movements. Other motor symptoms are possible including lip smacking. [16]

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Affected individuals may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, temporomandibular joint disorder, Tourette's syndrome, conversion disorder or other neuromuscular movement disorders. It has been found that the prevalence of dystonia is high in individuals with Huntington's disease, where the most common clinical presentations are internal shoulder rotation, sustained fist clenching, knee flexion, and foot inversion. [17] Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication. [17]

Causes

Primary dystonia is suspected when the dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system. Researchers suspect it is caused by a pathology of the central nervous system, likely originating in those parts of the brain concerned with motor function—such as the basal ganglia and the GABA (gamma-aminobutyric acid) producing Purkinje neurons. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions. [18]

Meningitis and encephalitis caused by viral, bacterial, and fungal infections of the brain have been associated with dystonia. The main mechanism is inflammation of the blood vessels, causing restriction of blood flow to the basal ganglia. Other mechanisms include direct nerve injury by the organism or a toxin, or autoimmune mechanisms. [19]

Malfunction of the sodium-potassium pump may be a factor in some dystonias. The Na+
-K+
 pump has been shown to control and set the intrinsic activity mode of cerebellar Purkinje neurons. [20] This suggests that the pump might not simply be a homeostatic, "housekeeping" molecule for ionic gradients; but could be a computational element in the cerebellum and the brain. [21] Indeed, an ouabain block of Na+
-K+
 pumps in the cerebellum of a live mouse results in it displaying ataxia and dystonia. [22] Ataxia is observed for lower ouabain concentrations, dystonia is observed at higher ouabain concentrations. A mutation in the Na+
-K+
 pump (ATP1A3 gene) can cause rapid onset dystonia parkinsonism. [23] The parkinsonism aspect of this disease may be attributable to malfunctioning Na+
-K+
 pumps in the basal ganglia; the dystonia aspect may be attributable to malfunctioning Na+
-K+
 pumps in the cerebellum (that act to corrupt its input to the basal ganglia) possibly in Purkinje neurons. [20]

Cerebellum issues causing dystonia is described by Filip et al. 2013: "Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease. It has been suggested that the cerebellum plays an important role in dystonia etiology, from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy, and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions. It is proposed that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways, but the cortico-ponto-cerebello-thalamo-cortical loop as well. Even in the absence of traditional "cerebellar signs" in most dystonia patients, there are more subtle indications of cerebellar dysfunction. It is clear that as long as the cerebellum's role in dystonia genesis remains unexamined, it will be difficult to significantly improve the current standards of dystonia treatment or to provide curative treatment." [24]

Treatment

Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression, or selective denervation surgery. [25] Almost all treatments have negative side-effects and risks. A geste antagoniste is a physical gesture or position (such as touching one's chin) that temporarily interrupts dystonia, it is also known as a sensory trick. [26] Patients may be aware of the presence of a geste antagoniste that provides some relief. [27] Therapy for dystonia can involve prosthetics that passively simulate the stimulation. [28]

Physical intervention

While research in the area of effectiveness of physical therapy intervention for dystonia remains weak, [29] there is reason to believe that rehabilitation can benefit dystonia patients. [30] Physical therapy can be utilized to manage changes in balance, mobility and overall function that occur as a result of the disorder. [31] A variety of treatment strategies can be employed to address the unique needs of each individual. Potential treatment interventions include splinting, [32] therapeutic exercise, manual stretching, soft tissue and joint mobilization, postural training and bracing, [30] neuromuscular electrical stimulation, constraint-induced movement therapy, activity and environmental modification, and gait training. [31]

Recent research has investigated further into the role of physiotherapy in the treatment of dystonia. A recent study showed that reducing psychological stress, in conjunction with exercise, is beneficial for reducing truncal dystonia in patients with Parkinson's disease. [33] Another study emphasized progressive relaxation, isometric muscle endurance, dynamic strength, coordination, balance, and body perception, seeing significant improvements to patients' quality of life after 4 weeks. [34]

Since the root of the problem is neurological, doctors have explored sensorimotor retraining activities to enable the brain to "rewire" itself and eliminate dystonic movements. The work of several doctors such as Nancy Byl and Joaquin Farias has shown that sensorimotor retraining activities and proprioceptive stimulation can induce neuroplasticity, making it possible for patients to recover substantial function that was lost due to Cervical Dystonia, hand dystonia, blepharospasm, oromandibular dystonia, dysphonia and musicians' dystonia. [35] [36] [37] [38] [39]

Due to the rare and variable nature of dystonia, research investigating the effectiveness of these treatments is limited. There is no gold standard for physiotherapy rehabilitation. [33] To date, focal cervical dystonia has received the most research attention; [31] however, study designs are poorly controlled and limited to small sample sizes. [29]

Baclofen

A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia. The pump delivers baclofen via a catheter to the thecal space surrounding the spinal cord. The pump itself is placed in the abdomen. It can be refilled periodically by access through the skin. Baclofen can also be taken in tablet form [40]

Botulinum toxin injection

Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3–6 months, depending on the kind of dystonia. Botox or Dysport injections have the advantage of ready availability (the same form is used for cosmetic surgery) and the effects are not permanent. There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups, causing weakness or paralysis in them. The injections must be repeated, as the effects wear off and around 15% of recipients develop immunity to the toxin. There is a Type A and a Type B toxin approved for treatment of dystonia; often, those that develop resistance to Type A may be able to use Type B. [41]

Muscle relaxants

Clonazepam, a benzodiazepine, is also sometimes prescribed. However, for most, their effects are limited and side-effects like mental confusion, sedation, mood swings, and short-term memory loss occur.

Ketogenic diet

One complex case study found that a ketogenic type diet may have been helpful in reducing symptoms associated with alternating hemiplegia of childhood (AHC) of a young child. However, as the researchers noted, their results could have been corollary in nature and not due to the diet itself, though future research is warranted. [42]

Surgery

Schematic representation of a patient with cervical dystonia, with deep brain stimulation (DBS) electrodes implanted in the internal globus pallidus (GPi) GPi DBS for cervical dystonia.pdf
Schematic representation of a patient with cervical dystonia, with deep brain stimulation (DBS) electrodes implanted in the internal globus pallidus (GPi)

Surgery, such as the denervation of selected muscles, may also provide some relief; however, the destruction of nerves in the limbs or brain is not reversible and should be considered only in the most extreme cases. Recently, the procedure of deep brain stimulation (DBS) has proven successful in a number of cases of severe generalised dystonia. [43] DBS as treatment for medication-refractory dystonia, on the other hand, may increase the risk of suicide in patients. However, reference data of patients without DBS therapy are lacking. [44]

History

The Italian Bernardino Ramazzini provided one of the first descriptions of task-specific dystonia in 1713 in a book of occupational diseases, The Morbis Artificum. [45] In chapter II of this book's Supplementum, Ramazzini noted that "Scribes and Notaries" may develop "incessant movement of the hand, always in the same direction … the continuous and almost tonic strain on the muscles... that results in failure of power in the right hand". A report from the British Civil Service also contained an early description of writer's cramp. In 1864, Solly coined the term "scrivener's palsy" for this condition. These historical reports usually attributed the etiology of the motor abnormalities to overuse. Then, dystonia were reported in detail in 1911, when Hermann Oppenheim, [46] Edward Flatau and Wladyslaw Sterling described some Jewish children affected by a syndrome that was retrospectively considered to represent familial cases of DYT1 dystonia. Some decades later, in 1975, the first international conference on dystonia was held in New York. It was then recognized that, in addition to severe generalized forms, the dystonia phenotype also encompasses poorly-progressive focal and segmental cases with onset in adulthood, such as blepharospasm, torticollis and writer's cramp. These forms were previously considered independent disorders and were mainly classified among neuroses. A modern definition of dystonia was worded some years later, in 1984. During the following years it became evident that dystonia syndromes are numerous and diversified, new terminological descriptors (e.g., dystonia plus, heredodegenerative dystonias, etc.) and additional classification schemes were introduced. The clinical complexity of dystonia was then fully recognized. [47]

See also

Related Research Articles

Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.

<span class="mw-page-title-main">Essential tremor</span> Movement disorder that causes involuntary tremors

Essential tremor (ET), also called benign tremor, familial tremor, and idiopathic tremor, is a medical condition characterized by involuntary rhythmic contractions and relaxations of certain muscle groups in one or more body parts of unknown cause. It is typically symmetrical, and affects the arms, hands, or fingers; but sometimes involves the head, vocal cords, or other body parts. Essential tremor is either an action (intention) tremor—it intensifies when one tries to use the affected muscles during voluntary movements such as eating and writing—or it is a postural tremor, present with sustained muscle tone. This means that it is distinct from a resting tremor, such as that caused by Parkinson's disease, which is not correlated with movement.

<span class="mw-page-title-main">Tremor</span> Involuntary muscle contraction

A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, face, head, vocal folds, trunk, and legs. Most tremors occur in the hands. In some people, a tremor is a symptom of another neurological disorder.

Dyskinesia refers to a category of movement disorders that are characterized by involuntary muscle movements, including movements similar to tics or chorea and diminished voluntary movements. Dyskinesia can be anything from a slight tremor of the hands to an uncontrollable movement of the upper body or lower extremities. Discoordination can also occur internally especially with the respiratory muscles and it often goes unrecognized. Dyskinesia is a symptom of several medical disorders that are distinguished by their underlying cause.

<span class="mw-page-title-main">Hyperkinesia</span> Excessive movements due to basal ganglia dysfunction

Hyperkinesia refers to an increase in muscular activity that can result in excessive abnormal movements, excessive normal movements, or a combination of both. Hyperkinesia is a state of excessive restlessness which is featured in a large variety of disorders that affect the ability to control motor movement, such as Huntington's disease. It is the opposite of hypokinesia, which refers to decreased bodily movement, as commonly manifested in Parkinson's disease.

<span class="mw-page-title-main">Progressive supranuclear palsy</span> Medical condition

Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. PSP may be mistaken for other types of neurodegeneration such as Parkinson's disease, frontotemporal dementia and Alzheimer's disease. The cause of the condition is uncertain, but involves the accumulation of tau protein within the brain. Medications such as levodopa and amantadine may be useful in some cases.

<span class="mw-page-title-main">Hypokinesia</span> Decreased movement due to basal ganglia dysfunction

Hypokinesia is one of the classifications of movement disorders, and refers to decreased bodily movement. Hypokinesia is characterized by a partial or complete loss of muscle movement due to a disruption in the basal ganglia. Hypokinesia is a symptom of Parkinson's disease shown as muscle rigidity and an inability to produce movement. It is also associated with mental health disorders and prolonged inactivity due to illness, amongst other diseases.

Blepharospasm is any abnormal contraction of the orbicularis oculi muscle. The condition should be distinguished from the more common, and milder, involuntary quivering of an eyelid, known as myokymia, or fasciculation. In most cases, blepharospasm symptoms last for a few days and then disappear without treatment, but in some cases the twitching is chronic and persistent, causing life-long challenges. In these cases, the symptoms are often severe enough to result in functional blindness. The person's eyelids feel like they are clamping shut and will not open without great effort. People have normal eyes, but for periods of time are effectively blind due to their inability to open their eyelids. In contrast, the reflex blepharospasm is due to any pain in and around the eye.

<span class="mw-page-title-main">Spasmodic torticollis</span> Medical condition

Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to involuntarily turn to the left, right, upwards, and/or downwards. The condition is also referred to as "cervical dystonia". Both agonist and antagonist muscles contract simultaneously during dystonic movement. Causes of the disorder are predominantly idiopathic. A small number of patients develop the disorder as a result of another disorder or disease. Most patients first experience symptoms midlife. The most common treatment for spasmodic torticollis is the use of botulinum toxin type A.

Intention tremor is a dyskinetic disorder characterized by a broad, coarse, and low-frequency tremor evident during deliberate and visually-guided movement. An intention tremor is usually perpendicular to the direction of movement. When experiencing an intention tremor, one often overshoots or undershoots one's target, a condition known as dysmetria. Intention tremor is the result of dysfunction of the cerebellum, particularly on the same side as the tremor in the lateral zone, which controls visually guided movements. Depending on the location of cerebellar damage, these tremors can be either unilateral or bilateral.

Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous muscle contraction causing abnormal posture. The prevalence of myoclonus dystonia has not been reported, however, this disorder falls under the umbrella of movement disorders which affect thousands worldwide. Myoclonus dystonia results from mutations in the SGCE gene coding for an integral membrane protein found in both neurons and muscle fibers. Those suffering from this disease exhibit symptoms of rapid, jerky movements of the upper limbs (myoclonus), as well as distortion of the body's orientation due to simultaneous activation of agonist and antagonist muscles (dystonia).

<span class="mw-page-title-main">Basal ganglia disease</span> Group of physical problems resulting from basal ganglia dysfunction

Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. Research indicates that increased output of the basal ganglia inhibits thalamocortical projection neurons. Proper activation or deactivation of these neurons is an integral component for proper movement. If something causes too much basal ganglia output, then the ventral anterior (VA) and ventral lateral (VL) thalamocortical projection neurons become too inhibited, and one cannot initiate voluntary movement. These disorders are known as hypokinetic disorders. However, a disorder leading to abnormally low output of the basal ganglia leads to reduced inhibition, and thus excitation, of the thalamocortical projection neurons which synapse onto the cortex. This situation leads to an inability to suppress unwanted movements. These disorders are known as hyperkinetic disorders.

<span class="mw-page-title-main">Camptocormia</span> Symptom of a multitude of diseases, most commonly seen in the elderly

Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of the lower joints of the spine, occurring in a standing position. In order to be classified as BSS, the anterior flexion must be of 45 degrees anteriorly. This classification differentiates it from a similar syndrome known as kyphosis. Although camptocormia is a symptom of many diseases, there are two common origins: neurological and muscular. Camptocormia is treated by alleviating the underlying condition causing it through therapeutic measures or lifestyle changes.

<span class="mw-page-title-main">Neuroferritinopathy</span> Medical condition

Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood. These symptoms include chorea, dystonia, and cognitive deficits which worsen with age.

<span class="mw-page-title-main">Parkinsonian gait</span> Type of gait due to Parkinsons disease

Parkinsonian gait is the type of gait exhibited by patients with Parkinson's disease (PD). It is often described by people with Parkinson's as feeling like being stuck in place, when initiating a step or turning, and can increase the risk of falling. This disorder is caused by a deficiency of dopamine in the basal ganglia circuit leading to motor deficits. Gait is one of the most affected motor characteristics of this disorder although symptoms of Parkinson's disease are varied.

<span class="mw-page-title-main">Kufor–Rakeb syndrome</span> Medical condition

Kufor–Rakeb syndrome (KRS) is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). It is named after Kufr Rakeb in Irbid, Jordan. Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia. The disease was first described in 1994 by Najim Al-Din et al. The OMIM number is 606693.

Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. Some of the NBIA disorders have also been associated with several genes in synapse and lipid metabolism related pathways. NBIA is not one disease but an entire group of disorders, characterized by an accumulation of brain iron, sometimes in the presence of axonal spheroids in the central nervous system.

Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but the lack of overall awareness and the need for a series of atypical procedures used to diagnose this condition pose a dilemma.

<span class="mw-page-title-main">Cerebellar degeneration</span> Medical condition

Cerebellar degeneration is a condition in which cerebellar cells, otherwise known as neurons, become damaged and progressively weaken in the cerebellum. There are two types of cerebellar degeneration; paraneoplastic cerebellar degeneration, and alcoholic or nutritional cerebellar degeneration. As the cerebellum contributes to the coordination and regulation of motor activities, as well as controlling equilibrium of the human body, any degeneration to this part of the organ can be life-threatening. Cerebellar degeneration can result in disorders in fine movement, posture, and motor learning in humans, due to a disturbance of the vestibular system. This condition may not only cause cerebellar damage on a temporary or permanent basis, but can also affect other tissues of the central nervous system, those including the cerebral cortex, spinal cord and the brainstem.

Non-invasive cerebellar stimulation is the application of non-invasive neurostimulation techniques on the cerebellum to modify its electrical activity. Techniques such as transcranial magnetic stimulation (TMS) or transcranial direct current stimulation (tDCS) can be used. The cerebellum is a high potential target for neuromodulation of neurological and psychiatric disorders due to the high density of neurons in its superficial layer, its electrical properties, and its participation in numerous closed-loop circuits involved in motor, cognitive, and emotional functions.

References

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