Myoclonus dystonia includes the rapid contractions of myoclonus alongside the abnormal postures classified under dystonia, as well as neurological and psychiatric issues. This disease typically begins during childhood with symptoms of myoclonus and slight dystonia, most commonly cervical dystonia or writer’s cramp. Dystonia symptoms tend to not get exaggerated over the course of the disease and is rarely the only associated symptom, while the myoclonus symptoms can become more severe. Psychiatric issues are clinically diagnosed with the aforementioned symptoms and include depression, anxiety, personality disorders and addiction. Obsessive-compulsive disorder is associated with myoclonus dystonia as both have been found to have a commonality on chromosome 7 in various studies.

Neurological symptoms are relatively common in those with myoclonus dystonia. Any neurological abnormalities won’t normally be present in those affected at a young age. Neurological testing has been performed to determine the origins of these symptoms and multiple parts of the brain have been pinpointed including the brainstem, neocortex, pallidum, and thalamus. These cause various effects in those diagnosed with myoclonus dystonia including changes in posture and tremors, and very rarely dementia and ataxia.

Myoclonus is characterized by rapid contractions that affect the upper body including the neck, torso and arms, but may also affect the legs. These movements are stimulated by various factors including stress, noise, caffeine, and physical stimuli. Myoclonus can be characterized in multiple ways including neurological basis, muscular activity, and by stimuli. Myoclonus can be positive or negative; positive myoclonus results from brief spurts of muscle activity and negative myoclonus occurs when there is a lack of any muscular activity. Myoclonus is usually classified physiologically to optimize treatment. Myoclonus is a precursor effect to myoclonus dystonia and most commonly begins in childhood or adolescence.

Myoclonus is classified as cortical, subcortical, peripheral or spinal. Cortical myoclonus is the most common of these four and affects the upper limbs and face. Myoclonus dystonia has been characterized under subcortical origin, specifically under nonsegmented myoclonus or brainstem myoclonus. Symptoms within this classification include the startle response and reticular reflex myoclonus. Sudden stimuli like noise or touch to areas around the head or chest cause the startle response which will go up the brain stem and down the spinal cord causing jerk-like movements. Hyperekplexia is a heightened brainstem response where an affected person will continue to elicit the same response to a repeated stimuli. In contrast, reticular reflex myoclonus occurs spontaneously to stimuli applied to distal limbs. Spinal myoclonus is caused by defects in spinal organization or connections, and peripheral myoclonus has symptoms of rhythmic jerks due to a neuron-the most common being the hemifacial spasm.

The 'core' neuroacanthocytosis syndromes are chorea acanthocytosis and McLeod syndrome. Acanthocytes are nearly always present in these conditions and they share common clinical features. Some of these features are also seen in the other neurological syndromes associated with neuroacanthocytosis.

A common feature of the core syndromes is chorea: involuntary dance-like movements. In neuroacanthocytosis, this is particularly prominent in the face and mouth which can cause difficulties with speech and eating. These movements are usually abrupt and irregular and present during both rest and sleep.

Individuals with neuroacanthocytosis also often suffer from parkinsonism, the uncontrolled slowness of movements, and dystonia, abnormal body postures. Many affected individuals also have cognitive (intellectual) impairment and psychiatric symptoms such as anxiety, paranoia, depression, obsessive behavior, and pronounced emotional instability. Seizures may also be a symptom of neuroacanthocytosis.

Onset differs between individual neuroacanthocytosis syndromes but is usually between ages 20 and 40. Affected individuals usually live for 10–20 years after onset.

In mild cases, ET can manifest as the inability to stop the tongue or hands from shaking, the ability to sing only in vibrato, and difficulty doing small precise tasks such as threading a needle. Even simple tasks like cutting in a straight line or using a ruler can range from difficult to impossible, depending on the severity of the condition. In disabling cases, ET can interfere with a person's activities of daily living, including feeding, dressing, and taking care of personal hygiene. Essential tremor generally presents as a rhythmic tremor (4–12 Hz) that occurs only when the affected muscle is exerting effort. Any sort of physical or mental stress will tend to make the tremor worse.

The tremor may also occur in the head (neck), jaw and voice as well as other body regions, with the general pattern being that the tremor begins in the arms and then spreads to these other regions in some people. Women are more likely to develop the head tremor than are men. Other types of tremor may also occur, including postural tremor of the outstretched arms, intention tremor of the arms and rest tremor in the arms. Some people may have unsteadiness and problems with gait and balance.

ET-related tremors do not occur during sleep, but people with ET sometimes complain of an especially coarse tremor upon awakening that becomes noticeably less coarse within the first few minutes of wakefulness. Tremor and disease activity/intensity can worsen in response to fatigue, strong emotions, low blood sugar, cold and heat, caffeine, lithium salts, some antidepressants, and other factors. It is typical for the tremor to worsen in "performance" situations, such as when writing a check for payment at a store or giving a presentation.

Parkinson's disease and Parkinsonism can also occur simultaneously with ET. In those cases the degree of tremor, rigidity, and functional disability does not differ from those people with idiopathic Parkinson's disease. Hand tremor predominates (as it does in Parkinson’s disease), and occurs in nearly all cases, followed by head tremor, voice tremor, neck, face, leg, tongue and trunk tremor. Most other tremors occur in association with hand tremor. Walking difficulties in essential tremor are common. About half of patients have associated dystonia, including cervical dystonia, writer's cramp, spasmodic dysphonia, and cranial dystonia, and 20% of the patients had associated parkinsonism. Olfactory dysfunction (loss of sense of smell) is common in Parkinson’s disease, and has also been reported to occur in patients with essential tremor. A number of patients with essential tremor also exhibit many of the same neuropsychiatric disturbances seen in idiopathic Parkinson's disease.

Essential tremor with tremor onset after the age of 65 is associated with Mild cognitive impairement and dementia.

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

Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, and dropped items), cramping pain with sustained use, and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down, and the constant movement to avoid pain may result in the grinding and wearing down of teeth, or symptoms similar to temporomandibular joint disorder. The voice may crack frequently or become harsh, triggering frequent throat clearing. Swallowing can become difficult and accompanied by painful cramping.

Electrical sensors (EMG) inserted into affected muscle groups, while painful, can provide a definitive diagnosis by showing pulsating nerve signals being transmitted to the muscles even when they are at rest. The brain appears to signal portions of fibers within the affected muscle groups at a firing speed of about 10 Hz causing them to pulsate, tremble and contort. When called upon to perform an intentional activity, the muscles fatigue very quickly and some portions of the muscle groups do not respond (causing weakness) while other portions over-respond or become rigid (causing micro-tears under load). The symptoms worsen significantly with use, especially in the case of focal dystonia, and a "mirror effect" is often observed in other body parts: Use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. Stress, anxiety, lack of sleep, sustained use and cold temperatures can worsen symptoms.

Direct symptoms may be accompanied by secondary effects of the continuous muscle and brain activity, including disturbed sleep patterns, exhaustion, mood swings, mental stress, difficulty concentrating, blurred vision, digestive problems, and short temper. People with dystonia may also become depressed and find great difficulty adapting their activities and livelihood to a progressing disability. Side-effects from treatment and medications can also present challenges in normal activities.

In some cases, symptoms may progress and then plateau for years, or stop progressing entirely. The progression may be delayed by treatment or adaptive lifestyle changes, while forced continued use may make symptoms progress more rapidly. In others, the symptoms may progress to total disability, making some of the more risky forms of treatment worth considering. In some cases with patients who already have dystonia, a subsequent tramatic injury or the effects of general anethesia during an unrelated surgery can cause the symptoms to progress rapidly.

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Sufferers may be diagnosed as having similar and perhaps related disorders including Parkinson's disease, essential tremor, carpal tunnel syndrome, TMD, 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. Risk factors for increased dystonia in patients with Huntington's disease include long disease duration and use of antidopaminergic medication.

PED attacks are characterized in multiple ways. One distinguishing characteristic of PED patients is that they typically experience longer durations of dystonia during their attacks. The most frequent target of attacks are both legs bilaterally, rather than unilateral symptoms. The attacks have also been known to affect the upper half of the body as well. In some cases, patients have had attacks that affected the posturing of their neck and shoulder. Usually there is not an indicative aura symptom prior to a PED attack, which has to do with the nature of the onset of attacks.

The duration and frequency of PED attacks fall between those of PKD and PNKD. The attacks can be relieved with rest, typically taking about 10 minutes from cessation of the exercise. Attacks usually do not last longer than 30 minutes. Attacks typically occur at intervals of between a day and a month, however, there is a great deal of variability here. This variability can be contributed to the nature of the onset of attacks.

This is characterized by attacks of involuntary movements (dystonia, chorea, or ballism), which are typically triggered by sudden voluntary movements, but can also be triggered by involuntary movements as well (for example, hyperventilating). These voluntary movements usually involve whole body activity such as standing, walking, and running. The age of onset is typically in childhood or early adolescence with most cases reporting improvement or complete remission with aging. Attacks last from seconds to minutes and are known to be at higher risk of occurring during stress, fear, cold, heat, or menstruation.

The disease typically starts in one limb, typically one leg. Progressive dystonia results in clubfoot and tiptoe walking. The symptoms can spread to all four limbs around age 18, after which progression slows and eventually symptoms reach a plateau. There can be regression in developmental milestones (both motor and mental skills) and failure to thrive in the absence of treatment.

In addition, SS is typically characterized by signs of parkinsonism that may be relatively subtle. Such signs may include slowness of movement (bradykinesia), tremors, stiffness and resistance to movement (rigidity), balance difficulties, and postural instability. Approximately 25 percent also have abnormally exaggerated reflex responses (hyperreflexia), particularly in the legs. These symptoms can result in a presentation that is similar in appearance to that of Parkinson's Disease.

Many patients experience improvement with sleep, are relatively free of symptoms in the morning, and develop increasingly severe symptoms as the day progresses (i.e., diurnal fluctuation). Accordingly, this disorder has sometimes been referred to as "progressive hereditary dystonia with diurnal fluctuations." Yet some SS patients do not experience such diurnal fluctuations, causing many researchers to prefer other disease terms.

- Other symptoms - footwear

- excessive wear at toes, but little wear on heels, thus replacement of shoes every college term/semester.

- Other symptoms - handwriting

- near normal handwriting at infants/kindergarten (ages 3–5 school) years.

- poor handwriting at pre-teens (ages 8–11 school) years.

- very poor (worse) handwriting during teen (qv GCSE/A level-public exams) years.

- bad handwriting (worsening) during post-teen (qv university exams) years.

- very bad handwriting (still worsening) during adult (qv post-graduate exams) years.

- worsening pattern of sloppy handwriting best observed by school teachers via termly reports.

- child sufferer displays unhappy childhood facial expressions (depression.?)

Initial symptoms of spasmodic torticollis are usually mild. Some feel an invisible tremor of their head for a few months at onset. Then the head may turn, pull or tilt in jerky movements, or sustain a prolonged position involuntarily. Over time, the involuntary spasm of the neck muscles will increase in frequency and strength until it reaches a plateau. Symptoms can also worsen while the patient is walking or during periods of increased stress. Other symptoms include muscle hypertrophy, neck pain, dysarthria and tremor. Studies have shown that over 75% of patients report neck pain, and 33% to 40% experience tremor of the head.

Motor disorders are malfunctions of the nervous system that cause involuntary or uncontrollable movements or actions of the body (Stone). These disorders can cause lack of intended movement or an excess of involuntary movement (Mandal). Symptoms of motor disorders include tremors, jerks, twitches, spasms, contractions, or gait problems.

There are several types of torsion dystonia that affect different areas of the body. However, it is unknown if the gene that causes Early Onset Torsion Dystonia is responsible for the other dystonias as well.

- Cervical dystonia (spasmodic torticollis): A type of dystonia that affects the head, neck and spine. It can create problems by the characteristic turning of the head and neck from side to side.

- Blepharospasm: This type of dystonia causes involuntary contraction of the eyelids. The main concern for this dystonia is that it can cause the eyelids to close involuntarily and for indefinite periods of time.

- Oromandibular dystonia: A dystonia of the jaw, lips, and/or the tongue. It can make eating and swallowing very complicated due to the jaw being held open or shut for periods of time.

- Spasmodic dysphonia: A dystonia of the vocal cords. The complications surrounding this form of dystonia are speech related and can cause symptoms such as speech that wavers, speech that sounds like a whisper, or speech that is hesitant.

- Writer's cramp (occupational dystonia): A dystonia that affects the muscles of the hand and forearm. It is triggered by attempting to write or execute other fine-motor hand functions.

- Orofacial-Buccal dystonia (Meige's or Brueghal's Syndrome): A combination of blepharospasm and oromandibular dystonia.

- Early-onset torsion dystonia: The most severe type of dystonia, it begins in an arm or leg and progresses to the rest of the body until the person — in most cases, a child — is confined to a wheel chair.

Tremor is the uncontrollable shaking of an arm or a leg. Twitches or jerks of body parts may occur due to a startling sound or unexpected, sudden pain. Spasms and contractions are temporary abnormal resting positions of hands or feet. Spasms are temporary while contractions could be permanent. Gait problems are problems with the way one walks or runs. This can mean an unsteady pace or dragging of the feet along with other possible irregularities (Stone).

Chorea is a continuous, random-appearing sequence of one or more discrete involuntary movements or movement fragments. Although chorea consists of discrete movements, many are often strung together in time, thus making it difficult to identify each movement's start and end point. These movements can involve the face, trunk, neck, tongue, and extremities. Unlike dystonic movements, chorea-associated movements are often more rapid, random and unpredictable. Movements are repeated, but not rhythmic in nature. Children with chorea appear fidgety and will often try to disguise the random movements by voluntarily turning the involuntary, abnormal movement into a seemingly more normal, purposeful motion. Chorea may result specifically from disorders of the basal ganglia, cerebral cortex, thalamus, and cerebellum. It has also been associated with encephalitis, hyperthyroidism, anticholinergic toxicity, and other genetic and metabolic disorders. Chorea is also the prominent movement featured in Huntington's disease.

Athetosis is defined as a slow, continuous, involuntary writhing movement that prevents the individual from maintaining a stable posture. These are smooth, nonrhythmic movements that appear random and are not composed of any recognizable sub-movements. They mainly involve the distal extremities, but can also involve the face, neck, and trunk. Athetosis can occur in the resting state, as well as in conjunction with chorea and dystonia. When combined with chorea, as in cerebral palsy, the term "choreoathetosis" is frequently used.

Segmental dystonias affect two adjoining parts of the body:

- Hemidystonia affects an arm and foot on one side of the body.

- Multifocal dystonia affects many different parts of the body.

- Generalized dystonia affects most of the body, frequently involving the legs and back.

This type of tremor is often referred to as "kinetic tremor".

Essential tremor has been known as "benign essential tremor", but the adjective "benign" has been removed in recognition of the sometimes disabling nature of the disorder.

Episodes are relatively short-lived, lasting anywhere from 5–30 minutes, and in most cases disappear completely after cessation of the physical exercise. Most patients will experience 1 to 5 episodes per month, but some can have attacks daily. The muscles most often affected are usually in the legs and feet (75% of reported cases), but the upper body muscles such as the arms, face, neck, and trunk have also been observed to be affected during the episodes of dystonia. Age of onset is usually sometime in childhood, but can range from 1–30 years old. In one study it was found that the mean age of onset was around 8 years. Similarly in the study, the legs were the most common affected part of the body and the attacks were reported as stiffening and cramps by those affected.During an episode of PED patients find walking nearly impossible.Cerebral spinal fluid (CSF) analysis showed a two-fold increase of homovanillic acid and 5-hydroxyindoleacetic acid immediately following exercise compared to normal levels. This indicated that increased dopaminergic transmission could contribute to PED and other paroxysmal dyskinesias. Neurological examinations, EEG, and brain imaging are all normal in PED patients.

Segawa Syndrome (SS) also known as Dopamine-responsive dystonia (DRD), Segawa's disease, Segawa's dystonia and hereditary progressive dystonia with diurnal fluctuation, is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years (variable start age).

Characteristic symptoms are increased muscle tone (dystonia, such as clubfoot) and Parkinsonian features, typically absent in the morning or after rest but worsening during the day and with exertion. Children with SS are often misdiagnosed as having cerebral palsy. The disorder responds well to treatment with levodopa.

Torsion dystonia, also known as dystonia musculorum deformans, is a disease characterized by painful muscle contractions resulting in uncontrollable distortions. This specific type of dystonia is frequently found in children, with symptoms starting around the ages of 11 or 12. It commonly begins with contractions in one general area such as an arm or a leg that continue to progress throughout the rest of the body. It takes roughly 5 years for the symptoms to completely progress to a debilitating state.

The Greek word "blepharon" means "eyelid". Spasm means "uncontrolled muscle contraction". The term blepharospasm ['blef-a-ro-spaz-m] can be applied to any abnormal blinking or eyelid tic or twitch resulting from any cause, ranging from dry eyes to Tourette's syndrome to tardive dyskinesia. The blepharospasm referred to here is officially called benign essential blepharospasm (BEB) to distinguish it from the less serious secondary blinking disorders. "Benign" indicates the condition is not life-threatening, and "essential" is a medical term meaning "of unknown cause". It is both a cranial and a focal dystonia. Cranial refers to the head and focal indicates confinement to one part. The word dystonia describes abnormal involuntary sustained muscle contractions and spasms. Patients with blepharospasm have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids.

Oromandibular dystonia (OMD) is a form of focal dystonia that affects varying areas of the head and neck including the lower face, jaw, tongue and larynx. The spasms may cause the mouth to pull open, shut tight, or move repetitively. Speech and swallowing may be distorted. It is often associated with dystonia of the cervical muscles (Spasmodic Torticollis), eyelids (Blepharospasm), or larynx (Spasmodic Dysphonia).

In patients with OMD, involuntary contractions may involve the muscles used for chewing (masticatory muscles). These may include the thick muscle in the cheek that closes the jaw (masseter muscle) and the broad muscle that draws back the lower jaw and closes the mouth (temporalis muscle). Some patients may also experience involuntary contractions of the wide muscle at the side of the neck (platysmal muscle). This muscle draws down the corner of the mouth and lower lip or other muscle groups.

Oromandibular Symptoms

- difficulty opening the mouth (trismus)

- clenching or grinding of the teeth (bruxism)

- spasms of jaw opening

- sideways deviation or protrusion of the jaw

- lip tightening and pursing

- drawing back (retraction) of the corners of the mouth

- deviation or protrusion of the tongue.

- jaw pain

- difficulties eating and drinking

- difficulties speaking (dysarthria)

Blepharospasm symptoms

- the first symptom to appear is an increased rate of blinking

- uncontrollable squinting/closing of eyes

- light sensitivity (photophobia)

- squinting/eyes closing during speech

- uncontrollable eyes closing shut (rare instances completely causing blindness)

In addition, in some patients, the dystonic spasms may sometimes be provoked by certain activities, such as talking, chewing, or biting. Particular activities or sensory tricks may sometimes temporarily alleviate OMD symptoms, including chewing gum, talking, placing a toothpick in the mouth, lightly touching the lips or chin, or applying pressure beneath the chin.

Symptoms typically present in the 3rd or 4th decade of life, but have been seen as early as the age of 14. It presents with torsion dystonia, particularly when presenting at a younger age, which then progresses to parkinsonism with or without ongoing dystonia. Often the two symptoms coexist.The parkinsonian features of x-linked dystonia parkinsonism include festinating gait, bradykinesia, blepharospasm, and postural instability. It often lacks a resting tremor, helping to differentiate it from Parkinson's disease.

Spasmodic torticollis is a form of focal dystonia, a neuromuscular disorder that consists of sustained muscle contractions causing repetitive and twisting movements and abnormal postures in a single body region. There are two main ways to categorize spasmodic torticollis: age of onset, and cause. The disorder is categorized as early onset if the patient is diagnosed before the age of 27, and late onset thereafter. The causes are categorized as either primary (idiopathic) or secondary (symptomatic). Spasmodic torticollis can be further categorized by the direction and rotation of head movement.

The hallmark of the neuroacanthocytosis syndromes is the presence of acanthocytes in peripheral blood. "Acanthocytosis" originated from the Greek word "acantha", meaning thorn. Acanthocytes are spiculated red blood cells and can be caused by altered distribution of membrane lipids or membrane protein/skeleton abnormalities. In neuroacanthocytosis, acanthocytes are caused by protein but not lipid membrane abnormalities

Late-onset dyskinesia, also known as tardive dyskinesia, occurs after long-term treatment with an antipsychotic drug such as haloperidol (Haldol) or amoxapine (Asendin). The symptoms include tremors and writhing movements of the body and limbs, and abnormal movements in the face, mouth, and tongue including involuntary lip smacking, repetitive pouting of the lips, and tongue protrusions.

Rabbit syndrome is another type of chronic dyskinesia, while orofacial dyskinesia may be related to persistent replication of Herpes simplex virus type 1.