Diagnosis of Rhythmic Movement Disorder is done on an exclusionary basis in which other closely related movement disorders are systematically ruled out. Because of this, a thorough clinical evaluation is necessary. Often, impairments are not severe enough to warrant this process and so RMD is not often diagnosed unless there are extremely interfering or disabling symptoms. Many patients do not seek treatment for RMD directly and most seek professional help to alleviate sleep-affecting symptoms. To compound the issue, many sufferers are often misdiagnosed as having Restless Legs Syndrome or sleep apnea or some combination of the two. Rhythmic Movement Disorder differs from Restless Legs Syndrome in that RMD involves involuntary contractions of muscles with no urge or uncomfortable sensation to provoke such movement. Additionally, 80-90% of Restless Legs Syndrome sufferers show periodic limb movements as observed on a polysomnogram, which are not common in RMD patients. Rhythmic Movement Disorder can also have symptoms that overlap with epilepsy. However, use of a polysomnogram can help distinguish one disorder from the other as RMD involves movements in both REM and NREM sleep, which is unusual for seizures

. Additionally, patients can usually stop the movements upon request, unlike the movements observed in epilepsy. Other movement disorders like Parkinson’s Disease, Huntington’s Disease, ataxia, and dystonia differ from RMD in that they occur primarily during wakefulness and reduced sleep, whereas RMD episodes occur in or around sleep

Because a number of parasomnias may be confused with RBD, it is necessary to conduct formal sleep studies such as polysomnography (PSG) performed at sleep centers that are experienced in evaluating parasomnias in order to establish a diagnosis. In RBD, a single night of extensive monitoring of sleep, brain, and muscle activity will almost always reveal the lack of muscle paralysis during REM sleep, and it will also eliminate other causes of parasomnias.

Recently, due to the limited access to PSG, attempts have been made to identify RBD from clinical interview as well as questionnaires. Postuma et al. have validated a single-question screening tool for RBD (RBD1Q) that could be easily applied in general practice to the patient and their bed partner. A positive answer to the RBDQ1, ‘Have you ever been told or suspected yourself, that you seem to act out your dreams while asleep (for example, punching, flailing your arms in the air, making running movement etc.)?’ should encourage the medical practitioner to consider the diagnosis of RBD as it offers good sensitivity (94%) and specificity (87%). Other questionnaires, such as the Rapid Eye Movement (REM) sleep Behavior Disorder Screening Questionnaire (RBDSQ) or the REM Sleep Behavior Questionnaires – Hong-Kong are available for more detailed characterisation.

Medication is often not necessary in children as symptoms usually alleviate spontaneously as the child ages. However, because the disorder may affect wakeful behavior, many adults who continue to suffer from RMD may seek treatment. Benzodiazepines or tricyclic antidepressants have been considered as therapeutic options in managing the disorder. Infantile and adolescent RMD respond well to low doses of clonazepam. Prescription medications such as ropinirole or pramipexole given to restless legs syndrome patients do not show any clinical improvement in many patients with RMD.

PLMD is often treated with anti-Parkinson medication; it may also respond to anticonvulsants, benzodiazepines, and narcotics. Patients must stay on these medications in order to experience relief, because there is no known cure for this disorder.

PLMs tend to be exacerbated by tricyclic antidepressants, SSRIs, stress, and sleep deprivation. It is also advised not to consume caffeine, alcohol, or antidepressants as these substances could worsen the PLMD symptoms.

Other medications aimed at reducing or eliminating the leg jerks or the arousals can be prescribed. Non-ergot derived dopaminergic drugs (pramipexole and ropinirole) are preferred. Other dopaminergic agents such as co-careldopa, co-beneldopa, pergolide, or lisuride may also be used. These drugs decrease or eliminate both the leg jerks and the arousals. These medications are also successful for the treatment of restless legs syndrome.

In one study, co-careldopa was superior to dextropropoxyphene in decreasing the number of leg kicks and the number of arousals per hour of sleep. However, co-careldopa and, to a lesser extent, pergolide may shift the leg movements from the nighttime to the daytime.

Clonazepam (Klonopin), in doses of 1 mg has been shown to improve objective and subjective measures of sleep.

Historically, misdiagnosis rates have been high due to the complex nature of the disorder although some research now indicates that misdiagnosis may be reducing.

Tests of vestibular system (balance) function include electronystagmography (ENG), Videonystagmograph (VNG), rotation tests, Computerized Dynamic Posturography (CDP), and Caloric reflex test.

Tests of auditory system (hearing) function include pure-tone audiometry, speech audiometry, acoustic-reflex, electrocochleography (ECoG), otoacoustic emissions (OAE), and auditory brainstem response test (ABR; also known as BER, BSER, or BAER).

Other diagnostic tests include magnetic resonance imaging (MRI) and computerized axial tomography (CAT, or CT).

The International Classification of Disease (ICD-11) which is due to be finalised in 2017 will have functional disorders within the neurology section for the first time.

Paroxysmal kinesigenic dyskinesia is diagnosed using a strict set of guidelines. These criteria were studied and confirmed by Bruno et al. in a study of 121 individuals with PKD. The age at onset is between 1 and 20 years old. The attacks of involuntary movements last less than one minute and have a known trigger, usually a sudden voluntary movement. For example, if a PKD patient stands up or begins walking after being sedentary for a period of time, or a person goes from a walk to a run, it can trigger an attack. Persons with PKD do not lose consciousness during attacks and have a full memory of the entire attack. Lastly, people with the disorder have a good response to medication and are usually prescribed anticonvulsants. The study also found that patients with familial PKD exhibit symptoms that follow the diagnostic criteria closely, while sporadic PKD individuals may deviate slightly. Prior to criteria for diagnosis being set out, many patients with PKD were often diagnosed with some form of epilepsy. Many patients also experience an aura, similar to those experienced with epilepsy, preceding their attacks. Some patients describe it as a tingling sensation in the affected limb or “butterflies in their stomach.” Some individuals also have precipitants, such as stress and anxiety, that make it more likely for attacks to occur.

The above diagnostic criteria also set PKD apart from the other paroxysmal dyskinesias, which include paroxysmal nonkinesigenic dyskinesia (PNKD) and paroxysmal exercise-induced dyskinesia (PED). While PKD attacks last less than one minute, PNKD attacks last a few minutes to a few hours, and as the name suggests, the attacks do not occur because of a sudden voluntary movement like PKD. Additionally, PKD can almost always be managed with drug therapy, while PNKD is not as responsive to anticonvulsants. PED, on the other hand, separates itself from PKD in that it is caused by prolonged exercise. Attacks from PED will cease soon after exercise is stopped.

Step I : Decide the dominant type of movement disorder

Step II : Make differential diagnosis of the particular disorder

Step II: Confirm the diagnosis by lab tests

- Metabolic screening

- Microbiology

- Immunology

- CSF examination

- Genetics

- Imaging

- Neurophysiological tests

- Pharmacological tests

RBD is treatable. Medications are prescribed for RBD based on symptoms. Low doses of clonazepam is most effective with a 90% success rate. How this drug works to restore REM atonia is unclear: It is thought to suppress muscle activity, rather than directly restoring atonia. Melatonin is also effective and can also be prescribed as a more natural alternative. For those with Parkinson's and RBD, Levodopa is a popular choice. Pramipexole is another drug which can be an effective treatment option. Recent evidence has shown melatonin and clonazepam to be comparably effective in treatment of RBD with patients who received melatonin treatment reporting fewer side effects. In addition, patients with neurodegenerative diseases such as Parkinson's disease reported more favorable outcomes with melatonin treatment.

In addition to medication, it is wise to secure the sleeper's environment in preparation for episodes by removing potentially dangerous objects from the bedroom and either place a cushion round the bed or moving the mattress to the floor for added protection against injuries. Some extreme sufferers sleep in a sleeping bag zipped up to their neck, and wear mittens so they can't unzip it until they awake in the morning.

Patients are advised to maintain a normal sleep schedule, avoid sleep deprivation, and keep track of any sleepiness they may have. Treatment includes regulating neurologic symptoms and treating any other sleep disorders that might interfere with sleep. Sleep deprivation, alcohol, certain medications, and other sleep disorders can all increase RBD and should be avoided if possible.

PLMD is estimated to occur in approximately 4% of adults (aged 15–100), but is more common in the elderly, especially females, with up to 11% experiencing symptoms. PLMD appears to be related to restless legs syndrome (RLS) - a study of 133 people found that 80% of those with RLS also had PLMD. However the opposite is not true: many people who have PLMD do "not" also have restless legs syndrome.

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. 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.

The difficulty of making the right vestibular diagnosis is reflected in the fact that in some populations, more than one third of the patients with a vestibular disease consult more than one physician – in some cases up to more than fifteen.

Diagnosis of a balance disorder is complicated because there are many kinds of balance disorders and because other medical conditions—including ear infections, blood pressure changes, and some vision problems—and some medications may contribute to a balance disorder. A person experiencing dizziness should see a physiotherapist or physician for an evaluation. A physician can assess for a medical disorder, such as a stroke or infection, if indicated. A physiotherapist can assess balance or a dizziness disorder and provide specific treatment.

The primary physician may request the opinion of an otolaryngologist to help evaluate a balance problem. An otolaryngologist is a physician/surgeon who specializes in diseases and disorders of the ear, nose, throat, head, and neck, sometimes with expertise in balance disorders. He or she will usually obtain a detailed medical history and perform a physical examination to start to sort out possible causes of the balance disorder. The physician may require tests and make additional referrals to assess the cause and extent of the disruption of balance. The kinds of tests needed will vary based on the patient's symptoms and health status. Because there are so many variables, not all patients will require every test.

The degree of tremor should be assessed in four positions. The tremor can then be classified by which position most accentuates the tremor:

During a physical exam a doctor can determine whether the tremor occurs primarily during action or at rest. The doctor will also check for tremor symmetry, any sensory loss, weakness or muscle atrophy, or decreased reflexes. A detailed family history may indicate if the tremor is inherited. Blood or urine tests can detect thyroid malfunction, other metabolic causes, and abnormal levels of certain chemicals that can cause tremor. These tests may also help to identify contributing causes, such as drug interaction, chronic alcoholism, or another condition or disease. Diagnostic imaging using CT or MRI imaging may help determine if the tremor is the result of a structural defect or degeneration of the brain.

The doctor will perform a neurological examination to assess nerve function and motor and sensory skills. The tests are designed to determine any functional limitations, such as difficulty with handwriting or the ability to hold a utensil or cup. The patient may be asked to place a finger on the tip of her or his nose, draw a spiral, or perform other tasks or exercises.

The doctor may order an electromyogram to diagnose muscle or nerve problems. This test measures involuntary muscle activity and muscle response to nerve stimulation. The selection of the sensors used is important. In addition to studies of muscle activity, tremor can be assessed with accuracy using accelerometers .

Treatment depends upon the underlying disorder. Movement disorders have been known to be associated with a variety of autoimmune diseases.

Depending on subtype, many patients find that acetazolamide therapy is useful in preventing attacks. In some cases, persistent attacks result in tendon shortening, for which surgery is required.

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 physical characteristics of the tremor and the history of the patient will contribute to the diagnosis of Holmes tremor. A doctor will determine if the tremor is present during rest or voluntary muscle contraction and the frequency of the tremor. A Holmes tremor is generally made worse upon standing and upon intentional movements. Also, a Holmes tremor is not as rhythmic as other tremors.

To confirm the diagnosis of a Holmes tremor, a doctor will usually perform ancillary examinations. This includes measuring serum thyroid stimulating hormone levels to ensure the thyroid is functioning normally. This rules out the possibility hyperthyroidism is causing a different type of tremor. An MRI can also be performed to look for structural lesions in areas such as the thalamus, midbrain tegmentum, and substantia nigra.

CMM has clear severe impacts on a patient’s ability to carry out daily manual tasks. It is recommended that children be placed under more forgiving school environments, allowing more time for written evaluations and limiting handwritten assignments, to ease the burden of the movement disability. Furthermore, because of patients’ inability to perform pure unilateral movements and their difficulty with tasks requiring skilled bimanual coordination, young and new members to the workforce are encouraged to consider professions that do not require complex bimanual movements, repetitive or sustained hand movements, or extensive handwriting, to reduce overuse, pain, and discomfort in upper limbs.

Because of its pronounced and obviously noticeable signs and symptoms, CMM patients can suffer social stigma, however physicians need to make it clear to parents, family, and friends that the disorder bears no relation to intellectual abilities. However, the rarity of this neurologic disease, found in one in a million people, makes its societal and cultural significance quite limited.

The most commonly used scale to rate the severity of spasmodic torticollis is the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). It has been shown that this rating system has widespread acceptance for use in clinical trials, and has been shown to have “good interobserver reliability.” There are three scales in the TWSTRS: torticollis severity scale, disability scale, and pain scale. These scales are used to represent the severity, the pain, and the general lifestyle of spasmodic torticollis.

Almost all patients respond positively to antiepileptic (anticonvulsant) drugs. One of the drugs most often mentioned in the literature is carbamazepine, and is the most widely used drug for treating PKD. Other anticonvulsants like valproic acid, phenytoin and clonazepam are common alternatives. Other categories of drugs have also been used, such as dopamine affecting drugs like Levodopa or Tetrabenazine. Individuals with the disorder can also modify their behavior to lessen their attacks without the influence of drug therapy. For example, decreasing stress to avoid precipitants can help patients decrease the number of attacks. In addition, avoiding any sudden movements can also prevent an attack. In order to prevent an attack, some individuals use their auras as a warning, while others purposefully perform slow gestures or movements prior to a triggering movement. Many, if not most, individuals end up growing out of the attacks with age, even without medicinal therapy, but some patients will go back to having attacks after a period of remission. In regards to secondary PKD, treatment of the primary condition can lessen the PKD attacks in those individuals.

Parasomnias are a category of sleep disorders that involve abnormal movements, behaviors, emotions, perceptions, and dreams that occur while falling asleep, sleeping, between sleep stages, or during arousal from sleep. Most parasomnias are dissociated sleep states which are partial arousals during the transitions between wakefulness and NREM sleep, or wakefulness and REM sleep.

REM sleep behavior disorder or RBD is the most common REM sleep parasomnia in which muscle atonia is absent. This allows the individual to act out their dreams and may result in repeated injury—bruises, lacerations, and fractures—to themselves or others. Patients may take self-protection measures by tethering themselves to bed, using pillow barricades, or sleeping in an empty room on a mattress.

Demographically, 90% of RBD patients are males, and most are older than 50 years of age.

Typical clinical features of REM sleep behavior disorder are:

- Male gender predilection

- Mean age of onset 50–65 years (range 20–80 years)

- Vocalisation, screaming, swearing that may be associated with dreams

- Motor activity, simple or complex, that may result in injury to patient or bed-partner

- Occurrence usually in latter half of sleep period (REM sleep)

- May be associated with neurodegenerative disease

Acute RBD, occurs mostly as a result of a side-effect in prescribed medication—usually antidepressants. But if not then 55% of the time the cause is unknown the other 45% the cause is associated with alcohol.

Chronic RBD is idiopathic, meaning of unknown origin, or associated with neurological disorders. There is a growing association of chronic RBD with neurodegenerative disorders—Parkinson's disease, multiple system atrophy (MSA), or dementia—as an early indicator of these conditions by as much as 10 years.

Patients with narcolepsy also are more likely to develop RBD.

Currently, clinical diagnosis of CMM disorder has been based on clinical findings or molecular genetic testing.

"Clinical Findings (Signs and Symptoms)"""":"

- onset of mirror movements in infancy or early childhood

- persistence of mirror movements into and throughout adulthood with the absence of other neurologic disorders

- little improvement nor deterioration of mirror movements over the course of one’s life

- intensity of mirrored movements increasing with the complexity of the voluntary movement

- involuntary mirror movements that are generally of lesser amplitude compared with voluntary movements

- predominant mirror movement in upper limbs, with increasing severity in more distal appendages (fingers)

- inability to perform tasks requiring skilled bimanual coordination

- occasional pain in the upper limbs during prolonged manual activities

- occasional observed subclinical mirroring movement, but detectable with accelerometer gloves

"Molecular genetic testing"":"

- identification of a heterozygous mutant "DCC, DNAL4, or RAD51" gene (single gene test or multi-gene panel)