Introduction
The patient is a 24 year old male who was found laying on the floor of his apartment at 7.30 am by his friend who had come to pick him up to go to work. I was called in and directed to the living room where I found the patient on the floor with his arms tight and curled towards his chest, his head back, back arched, and his eyes rolled back with a fixed gaze. His mouth is open and his facial muscles appear to be pulled back tight. My first impression and thus diagnosis is that the patient is having an acute dystonic reaction (dystonia). My initial diagnosis is based on the presented symptoms which are characteristic of severe muscle spasm, a hallmark of acute dystonic reaction. Acute dystonic reaction particularly causes spasm of the muscles of the face, neck and limbs. I this particular instance the patient was found with his arm tight and curled to the chest (spasm of the arm muscles), his head back (spasm of the neck muscles), back arched (spasm of the back muscles), eyes rolled back with a fixed gaze, mouth open and facial muscles pulled back tight (spasm of the facial muscles). These symptoms therefore inform my diagnosis that the patient is experiencing acute dystonic reactions.
Dystonic reactions have been linked with alteration of dopaminergic-cholinergic balance by drugs. Several drugs have been linked with the dystonic reactions which include antipsychotic drugs, antiemetics (e.g. proclorperazine, metaclopramide), some antibiotics (e.g. erythromycin), anticonvulsants (e.g. vigabatrin, carbamazepine), antidepressants (e.g. sumitriptan and buspirone), antimalaria drugs (e.g. Chloroquine), H2 receptor antagonists (e.g. cimetidine, ranitidine) and recreational drugs such as cocaine. In addition dystonia can be due to damage to the nogrostriatum (basal ganglia) resulting from stroke, viral infections, lead or CO poisoning, oxygen deprivation, stroke, brain trauma, tumour and drug reaction. There are also forms of dystonia that are of genetic aetiology. Given the varied causes of dystonia, it is necessary to obtain the patient’s history as well as differential diagnosis. This is essay will focus on the definition of dystonia, the characteristics of dystonia, the biological, psychology and social risk factor associated with dystonia and the preliminary and differential diagnosis of dystonia (including the medical assessments conducted and history obtained). The paper will also look at the management (both short term and long term) of the condition as well as the scene where the patient was found. The paper will particularly focus on drug induced dystonia and thus look at the link with schizophrenia.
Defining dystonia, characteristics and diagnosis
Dystonia is neuromuscular disorder associated with abnormal posture and repetitive movement as a result of muscle spasms (involuntary and sustained contraction of muscles in different parts of the body) . There are different forms of the disorder depending on the muscles affected and the aetiology. Although the disorder is not life threatening it is extremely uncomfortable and distressing to the patient. The symptoms are as varied as the types of the disorder and thus are often used to categorize the disorder.
Dystonia is characterized by different symptoms that are dependent on the type. The patient begins by having foot cramp and then progresses into a dragging foot that may be sporadic or occur after walking or running for a distance. Another common characteristic of the disorder is a handwriting that becomes worse after several sentences. These symptoms are as a result of the involuntary and often sporadic contraction of the muscles in the extremities. The hands and the legs may turn or be tight, as is the case in the patient of the scenario. Spasms in the face usually affect the mouth and the eyes and are characterized by involuntary and rapid blinking of the eyes, fixed gaze with eyes rolled back, open mouth and tightened facial muscles. These are the symptoms that justify my diagnosis of the scenario as a case of dystonia.
The patient may also present with a turned neck particularly when stressed up or tired, difficulties in speaking and swallowing and even tremors. Initially the disorder may affect only a few parts of the body and the symptoms may not be easily noticed except when the patient is tired or stressed. As such the symptoms of the disorder may be exacerbated by the mental condition hence the correlation with mental illnesses such as acute psychosis. The symptoms may spread to other parts of the body with time especially if not well managed or they may not spread with time. Generally, the disorder does not affect cognitive abilities but may be accompanied by anxiety and depression.
The diagnosis of dystonia is based on the symptoms and the medical history of the patient. Given that dystonic reactions are more often than not caused by drugs, I would obtain medication history from the patient or relatives or friends. Dystonia has been associated with virtually all neuroleptic/antipsychotic drugs (Nochimson, 2012). It would therefore be important to find out if the patient is on antipsychotic drug, or has had a change of the antipsychotic drug or dosage. I would also need to know if the patient is on other medications that have been known to cause dystonia such as antiemetics (e.g. proclorperazine, metaclopramide), some antibiotics (e.g. erythromycin), anticonvulsants (e.g. vigabatrin, carbamazepine), antidepressants (e.g. sumitriptan and buspirone), antimalaria drugs (e.g. Chloroquine), H2 receptor antagonists (e.g. cimetidine, ranitidine). I would also need to investigate if the patient has had any brain injury or tumour, lead or CO poisoning, stroke incidence, or viral meningitis. Since there are hereditary forms of dystonia, family history of dystonia would also be necessary in making the diagnosis. I would also find out if the patient has recently abused of alcohol and cocaine because they are risk factors associated with dystonic reactions. Electromyography gives the definitive diagnosis as it shows pulsating nerve signals from the brain to the muscles even when the muscles are at rest. The procedure is however rarely used in diagnosis of dystonia, particularly the drug induced form (Nochimson, 2012). However it is worth noting that the symptoms of dystonia may be present in other conditions.
Biological, social and psychological factors associated with dystonia
It is worth to note that there are two broad categories of dystonia that are affected differently by psychological and socioeconomic factors. Primary dystonia has been linked to a combination of genetic predisposition and environmental factors. These factors initiate a pathological process that involve the parts of the central nervous system that are responsible for motor function, mainly the basal ganglia (nogrostriatum) and the gamma-amino butyric acid (GABA) system. There are many forms of dystonia categorized under primary dystonia. On the other hand, secondary dystonia, as the name suggests, is associated with other pathological or pharmacological or chemical or physical that cause damage to the basal ganglia or alteration to the dopaminergic-cholinergic balance.
Researchers have identified about 7 genetic mutations that are linked to the different hereditary (primary) forms of dystonia. Mutations in the DYT1 and DYT17 genes are associated with torsion dystonia which is a rare generalized dystonia that begins early in life and progresses to significant disability in later stages of life. Mutations in the DYT3 and DYT12 genes are aetiological factors in dystonic reactions linked to Parkinsonism. Dopa-responsive dystonia (DRD) (Segawa’s disease) is associated with mutations in the DYT5 and DYT6 genes. Dystonic reactions observed in myoclonus patients are caused by mutation in the DYT11 gene. These genetic forms of dystonia can be induced by environmental factors such as lead poisoning, neuroleptic drugs and careers involving high precision such as architecture, engineering and musicians playing high precision instruments (Nemeth, 2006; Chouery, et al., 2008; Senelick, 2012; National Institute of Neurological Disorders and Stroke, 2012).
It is worth noting that dystonia, though not considered a mental illness, it has been found to lead to anxiety and severe depression due the pain, social isolation and the stigma often associated with the disorder. For this very reason management of the disorder should involve multidisciplinary approach that also incorporates psychological and social counselling in addition to the medical treatment. In addition there is significant evidence that stress exacerbates the symptoms dystonia. The major link between dystonia and psychological factors is the use of antipsychotic/ neuroleptic drugs that are used in the management of various psychological disorders. Indeed, as earlier mentioned, dystonia has been associated with virtually every antipsychotic drug (Okun, 2009; Geofrey Nochimson, 2012).
Treatment and management
At the very onset when called to the scene one would on focus on calming the patient down and ensuring that the patient does not harm himself or others. It would be vital to get rid of onlookers because the patient may get more anxious due to the crowd and the anxiety could aggravate the dystonic reaction. Once the patient is calm and the onlookers have been sent of then getting the medical history of the patient is essential. As much as possible the history should be obtained from the patient. Hardly is emergency intervention required because drug therapy will suffice (Nochimson, 2012).
Treatment of dystonic reactions is aimed at alleviating the symptoms. One of the recent and most effective treatments of dystonia involves the injection of botulinum toxin at least once every 3 months in the affected muscles. The toxin impedes the effects of acetylcholine that causes muscle contraction. Several drugs are used to influence the neurotransmitters involved in motor function such as trihexyphenidyl, benztropine, diazepam, clonazepam, lorazepam, baclofen, tetrabenazine, levadopa and procydine hydrochloride. Deep brain stimulation is also used in severe cases of dystonia that defy pharmacological therapy. Other forms of therapy employed for the management of dystonia include speech therapy, physiotherapy and psychological therapies. There is close association of dystonia and schizophrenia which calls for a brief look at.
Schizophrenia: incidence, current theories of development and factors involved
Schizophrenia is a mental condition that impairs the emotional responsiveness, perception, behaviour and the thought process. The classical symptoms of schizophrenia include disorganized thoughts and speech, paranoia, hallucinations, delusion, bizarre behaviour, emotional disengagement (blunted affect), alogia, aloofness, lack motivation and anhedonia (inability to enjoy pleasurable activities). The global prevalence is approximately 1.1% of the population over the age of 18 years. There are about 1 out of 4,000 cases of schizophrenia diagnosed annually.
The theories explaining the causes of schizophrenia include neurotransmitter theories, receptor theory and psychosocial theory. The neurotransmitter theory involves the dopamine pathway. This theory stipulates that schizophrenia is caused by an increase in the concentration of dopamine in the CNS. More specifically it is believed that the symptoms of schizophrenia are due to the hyperactivity of the mesolimbic dopamine neurons and the hypoactivity of the mesocortical. The psychosocial theory stipulates that the symptoms of schizophrenia are triggered by psychosocial factors such as stress and low economic status. This theory has been backed by the higher prevalence of the condition among the people with low economic power than the general population. The link between poverty and stress is a key component of the psychosocial theory. As such, schizophrenia is affected by social factors.
Research has established that several genetic mutations that predisposes an individual to schizophrenia. The interaction of the genetic, environmental and social factors triggers the symptoms of schizophrenia. Mutations on genes such as DISC1, dysbindin and neuregulin have been associated with schizophrenia. As earlier stated, schizophrenia is linked to poverty and stress. In addition, certain drugs such as cocaine, amphetamine, marijuana and alcohol have been associated with schizophrenia. Schizophrenia is also associated with other mental and neurological disorders such as autism, acute psychosis and dystonia. The disorders are linked in terms of the similarity in the symptoms and treatment as well as sharing the genetic aetiology. For instance some genetic mutations associated with schizophrenia e.g. 22q11.2, 1q21.1, and 15q13.3 are also associated with autism.
There is enormous evidence linking schizophrenia with childhood physical and sexual abuse. In one study 78% of those with schizophrenia were sexually abused in their childhood. Another study established that 85% of those diagnosed with schizophrenia were either abused or neglected as children. It is postulated that child abuse impairs with stress regulation as well as impairs cognitive abilities culminating in predisposition to psychosis
Schizophrenia has no known cure for schizophrenia and treatment is aimed at alleviating the symptoms. Antipsychotic drugs such as ziprasidone, olanzapine, clozapine and aripiprazole are used in the treatment of schizophrenia. The same drugs used in the management of schizophrenia have been associated with the causation of dystonia. In addition stress and poverty are two social factors that have been found to affect both schizophrenia and dystonia.
Conclusion
Dystonia is a neuromuscular disorder that is mainly caused by the damage to the basal ganglia and an imbalance in the dopaminergic-cholinergic system. The said damage or imbalance has been associated with several drugs, key among them antipsychotic drugs used in the treatment of different psychotic conditions such as schizophrenia. The symptoms of dystonia vary widely depending on the form of dystonia. Genetic, social and environmental factors interact intricately to trigger both schizophrenia and dystonia.
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