The guidelines for diagnosing PKD were reviewed and confirmed by Unterberger and Trinka. PKD consists of unexpected forms of involuntary movements of the body. The patient is usually diagnosed sometime before their 20's, and is more likely diagnosed during childhood than early adulthood. Almost all PKD's are idiopathic, but there have been examples of autosomal dominant inheritance as well. Physical examination and brain imaging examinations show normal results, and an EEG shows no specific abnormalities as well. However, the negative synchronous EEG results can be used to prove that PKD is not a sort of reflex epilepsy, but a different disease.

PKD is the most prevalent subtype of paroxysmal dyskinesia, encompassing over 80% of all given PD diagnosis. PKD is more prevalent in boys, usually as high as 3.75:1.

Diagnosis is similar, but slightly different for each type of PD. Some types are more understood than others, and therefore have more criteria for diagnosis.

As of 1993 only approximately 30 people with AHC had been described in scientific literature. Due to the rarity and complexity of AHC, it is not unusual for the initial diagnosis to be incorrect, or for diagnosis to be delayed for several months after the initial symptoms become apparent. The average age of diagnosis is just over 36 months. Diagnosis of AHC is not only difficult because of its rarity, but because there is no diagnostic test, making this a diagnosis of exclusion. There are several generally accepted criteria which define this disorder, however other conditions with a similar presentation, such as HSV encephalitis, must first be ruled out. Due to these diagnostic difficulties, it is possible that the commonness of the disease is underestimated.

The following descriptions are commonly used in the diagnosis of AHC. The initial four criteria for classifying AHC were that it begins before 18 months of age, includes attacks of both hemiplegia on either side of the body, as well as other autonomic problems such as involuntary eye movement (episodic monocular nystagmus), improper eye alignment, choreoathetosis, and sustained muscle contractions (dystonia). Finally, patients suffer from intellectual disabilities, delayed development, and other neurological abnormalities. These diagnostic criteria were updated in 1993 to include the fact that all of these symptoms dissipate immediately upon sleeping. Diagnostic criteria were also expanded to include episodes of bilateral hemiplegia which shifted from one side of the body to the other.

Recent criteria have been proposed for screening for AHC early, in order to improve the diagnostic timeline. These screening criteria include focal or unilateral paroxysmal dystonia in the first 6 months of life, as well as the possibility of flaccid hemiplegia either with or separate from these symptoms. Paroxysmal ocular movements should also be considered, and these should include both binocular and monocular symptoms which show in the first 3 months of life.

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.

Since paroxysmal exercise-induced dystonia is such a rare disorder it makes it difficult to study the disease and find consistencies. Many of the current studies seem to have contradicting conclusion but this is due to the fact that studies are usually limited to a very small number of test subjects. With such small numbers it is hard to determine what is a trend and what is random when in comes to characterizing the disease. Further study is needed to find better diagnostic techniques and treatments for PED. Patients with PED are living a limited lifestyle since simple tasks like walking and exercise are often impossible.

Sporadic cases may be brought on by minor head injuries and concussions. This was observed in one patient who started experiencing painless dystonia after mild exercise following a concussion. More research still needs to be done to determine how injuries can induce PED, as little is known in this area. Two cases of PED have been associated with insulinomas, after removal of which the symptoms of PED were resolved.

Patients who develop PSH after traumatic injury have longer hospitalization and longer durations in intensive care in cases where ICU treatment is necessary. Patients often are more vulnerable to infections and spend longer times on ventilators, which can lead to an increased risk of various lung diseases. PSH does not affect mortality rate, but it increases the amount of time it takes a patient to recover from injury, compared to patients with similar injuries who do not develop PSH episodes. It often takes patients who develop PSH longer to reach similar levels of the brain activity seen in patients who do not develop PSH, although PSH patients do eventually reach these same levels.

Overall outcomes for AHC are generally poor, which is contributed to by AHC's various diagnostic and management challenges. In the long term, AHC is debilitating due to both the hemiplegic attacks and permanent damage associated with AHC. This damage can include cognitive impairment, behavioral and psychiatric disorders, and various motor impairments. There is, however, not yet any conclusive evidence that AHC is fatal or that it shortens life expectancy, but the relatively recent discovery of the disorder makes large data for this type of information unavailable. Treatment for AHC has not been extremely successful, and there is no cure. There are several drugs available for treatment, as well as management strategies for preventing and dealing with hemiplegic attacks.

Diagnosing PSH can be very difficult due to the lack of common terminology in circulation and a lack of diagnostic criteria. Different systems for diagnosis have been proposed, but a universal system has not been embraced. One example of a proposed system of diagnosis requires observation confirmation for four of the six following symptoms: fever greater than 38.3 degrees Celsius, tachycardia classified as a heart rate of 120 bpm or higher, hypertension classified as a systolic pressure higher than 160 mmHg or a pulse pressure higher than 80 mmHg, tachypnea classified as respiration rate higher than 30 breaths per minute, excess sweating, and severe dystonia. Ruling out other diseases or syndromes that show similar symptoms is imperative to diagnosis as well. Sepsis, encephalitis, neuroleptic malignant syndrome,

malignant hyperthermia, lethal catatonia, spinal cord injury (not associated with PSH), seizures, and hydrocephalus (this can be associated with PSH) are examples of diagnoses that should be considered due to the manifestation of similar symptoms before confirming a diagnosis of PSH. PSH has no simple radiological features that can be observed or detected on a scan.

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.

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

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

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

Most pharmacological treatments work poorly, but the best treatment is a low dosage of clonazepam, a muscle relaxant. Patients may also benefit from other benzodiazepines, phenobarbital, and other anticonvulsants such as valproic acid. Affected individuals have reported garlic to be effective for softening the attacks, but no studies have been done on this.

Benign paroxysmal torticollis disappears in the early years of life with no medical intervention.

However, some cases of benign paroxysmal torticollis cases can evolve into benign paroxysmal vertigo of childhood, migrainous vertigo or typical migraines.

No known treatment for BPT currently exists. However, the condition it is self-limiting and resolves after about eighteen months.

Weber's syndrome is the only form of alternating hemiplegia that is somewhat easy to diagnose beyond the general criteria. Although Weber's syndrome is rare, a child born with the disorder typically has a port-wine stain on the face around the eye. While the port-wine stain does not necessarily mean the child has Weber's syndrome, if the port-wine stain involves the ophthalmic division of the trigeminal nerve than the likelihood of it being weber's syndrome greatly increases. If a port-wine stain around the eye is found, the patient should be screened for intracranial leptomeningeal angiomatosis. Magnetic resonance imaging (MRI)can be used to determine the presence and severity while computed cranial tomography can be used to determine the effect. MRI is the preferred diagnostic test on children presenting with port-wine stain. Other imaging techniques can be used in addition to further determine the severity of the disorder. The initial diagnosis is made based on the presence of neurologic and ophthalmic disease but the disease progresses differently in each patient so after initial diagnosis the patient should be monitored frequently in order to handle further complications resulting from the syndrome.

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.

There is no diagnostic test for alternating hemiplegia, which makes it very difficult to diagnose. Also, because alternating hemiplegia is extremely rare, it is frequently missed and the patient is often misdiagnosed. Proper diagnosis, however, is critical for early treatment of the disorder. There are many criteria that can help in the proper general diagnosis of alternating hemiplegia.

Criteria for diagnosis of abdominal epilepsy includes frequent periodic abdominal symptoms, an abnormal electroencephalogram (EEG) and significant improvement of gastrointestinal symptoms after taking anti-seizure medication. Medical testing for diagnosis can be completed using MRI scans of the brain, CT scans and ultrasounds of the abdomen, endoscopy of the gastrointestinal tract, and blood tests.

Geniospasm is movement disorder of the mentalis muscle.

It is a benign genetic disorder linked to chromosome 9q13-q21 where there are episodic involuntary up and down movements of the chin and lower lip. The movements consist of rapid fluttering or trembling at about 8 Hz superimposed onto a once per three seconds movement of higher amplitude and occur symmetrically in the V shaped muscle. The tongue and buccal floor muscles may also be affected but to a much lesser degree.

The movements are always present but extreme episodes may be precipitated by stress, concentration or emotion and commence in early childhood.

The condition is extremely rare and in a study in 1999 only 23 families in the world were known to be affected, although it may be under-reported. Inheritance is aggressively autosomal dominant. In at least two studies the condition appeared spontaneously in the families.

The condition responds very well to regular botulinus toxin injections into the mentalis muscle which paralyse the muscle but cause no impairment of facial expression or speech.

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.

Currently, no treatment slows the neurodegeneration in any of the neuroacanthocytosis disorders. Medication may be administered to decrease the involuntary movements produced by these syndromes. Antipsychotics are used to block dopamine, anticonvulsants treat seizures and botulinum toxin injections may control dystonia. Patients usually receive speech, occupational and physical therapies to help with the complications associated with movement. Sometimes, physicians will prescribe antidepressants for the psychological problems that accompany neuroacanthocytosis. Some success has been reported with Deep brain stimulation.

Mouthguards and other physical protective devices may be useful in preventing damage to the lips and tongue due to the orofacial chorea and dystonia typical of chorea acanthocytosis.

Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount and Reback in 1940 under the name "Familial paroxysmal choreoathetosis". It is a rare hereditary disease that affects various muscular and nervous systems in the body, passing to roughly fifty percent of the offspring.

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.