Clinical Characteristics and Genetics of Dystonia
The dystonias comprise a heterogeneous group of neurologic movement disorders, which collectively represent the third most prevalent neurological movement disease in the United States (Bragg, 2011). Clinical manifestations of disease include sustained or intermittent, involuntary muscle contractions that result in abnormal twisting, postures, and/or movements (Albanese, 2013). Because of the broad spectrum of clinical characteristics and disease pathology, it is necessary to classify dystonias to aid in diagnosis, treatment, and research.
Currently, there are no standardized classification systems, but several have been suggested. The most recent proposal is to categorize dystonias by clinical
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Primary and secondary describes the extent to which dystonia symptoms predominate phenotype. Primary dystonias, or pure forms of dystonia, describe dystonia phenotypes that do not have additional pathological abnormalities (Fahn, 1987). Secondary dystonias, or dystonia plus and combined dystonias, refer to phenotypes that are predominantly dystonia but coexists with other movement disorders such as Parkinsonism and myoclonus (Fahn, 1998). As a whole, dystonias vary greatly in phenotype and pathology, making it challenging to study, diagnose, and treat.
As of 2011, there have been 19 inherited dystonias identified, with the majority of the dystonias being monogenic (Fuchs and Ozelius et al, 2011). These dystonias are distinguished by their DTY names, which refer to the locus associated with the disease. While most of the identified dystonias are associated with a specific gene, more needs to be understood about the underlying molecular pathways to find better treatments and improve individualization of current
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However, for well-established dystonias such as DYT1, commercial genetic screening is available, facilitating clinical diagnosis (Schwarz and Bressman, 2009). For other dystonias that show high penetrance, such as XDP, genetic counseling can offer insight by analyzing family histories and pedigrees (Schwarz and Bressman, 2009).
There are various forms of treatment available for dystonia symptoms, ranging from oral medication to invasive surgeries. Oral medications, including dopaminergic drugs, anti-dopaminergic drugs, anti-cholinergic drugs, and muscle relaxants, generally offer brief relief of dystonic contractions, while Deep Brain Stimulation (DBS) surgeries tend to provide more effective results, but also carry greater risks (Schwarz and Bressman, 2009).
Dopaminergic drugs such as levodopa are used for early-onset dystonias and have shown modest improvements. Resistance to this drug also helps exclude dopa-responsive dystonias when attempting to diagnose the specific type of dystonia (Schwarz and Bressman, 2009). Anti-dopaminergic drugs, such as clozapine, and anticholinergic drugs are used to treat segmental and generalized dystonias (Schwarz and Bressman, 2009 source 101, 104, 105). However, most dystonias require combination therapy, including prescription of muscle relaxants. Unfortunately, most pharmacologic treatments have adverse effects, such as Parkinsonism,
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
Recent studies have shown, though somewhat ambiguously, that GABA (gamma amino butyric acid, a usually inhibitory neurotransmitter) gives some improvement over the symptoms of Tardive Dyskinesia.
Varanese, S., Birnbaum, Z., Rossi, R., & Di Rocco, A. (2010). Treatment of Advanced Parkinson's Disease. Parkinson's Disease.
Unfortunately, no treatment has been able to fully cure the disease. Treatment began primitively, consisting of things such as “bloodletting from the neck” which was followed by induced inflammation and blistering to the skin. Today, the most common and effective way of treating Parkinson’s temporarily is through attempting to balance dopamine and acetylcholine levels within the brain by prescribing patients with what is known on the market commonly as Levodopa. It is essentially a dopamine supplement of which’s dosage must be individualized for each different patient since the symptoms vary from person to person (Goldmann, 44). This treatment will eventually become less and less effective as the progression of the disease continues. All that patients and neurologists seem to be able to do is attempt to manage the symptoms it
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
For some types of MD, medication can help. Guys with Duchenne MD may be helped by a medicine called prednisone, and teens with myotonic MD might use mexilitine to relax muscles.
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
The basal ganglia are part of the extrapyramidal system and work in conjunction with the motor cortex in providing movement and serve as the relay center. Damage to this area results in Athetoid Cerebral Palsy, the second most common form of cerebral palsy. Involuntary purposeless movements, particularly in the arms, hands, and facial muscles, characterize Athetosis. In addition, the individual can become “stuck” in abnormal positions or postures and require specific positioning to maintain more normal tome and
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
Muscular dystrophy is a complex disease that has been around for many years. Although it was discovered in the 1830s there is constant discoveries about the disorder. (“New knowledge about Muscular dystrophy,” 2014 May 5) There are several research studies being done around the world to help find a cure. Here’s to hoping that a cure will be found and no more lives will be taken by this debilitating disease (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Most signs and symptoms of Parkinson disease correspond to one of three motor deficiencies: bradykinesia, akinesia, tremor, and rigidity. The first two qualities are usually present before tremor, but often attributed to aging by the patient and even the physician, and thus the disease is rarely diagnosed until tremor becomes evident much later. An average of 80% of the nigrostriatal neurons may have already degenerated by the time Parkinsonism is diagnosed, which complicates treatment (Fitzgerald, 130). Bra...
 Mild, chronic depression has probably existed as long as the human condition, although it has been referred to by various different names. The DSM-III replaced the term “neurotic depression” with dysthymic disorder--which literally means ‘ill-humored’-and it was added to the Diagnostic and Statistical Manual of Mental Disorders, 1980
Classification refers to the procedure in which ideas or objects are recognized, distinguished and understood. Currently, two leading systems are used for grouping of mental disorder namely International Classification of Disease (ICD) by World Health Organization (WHO) and the Diagnostic and Statistical Manual of Mental disorders (DSM) by the American Psychiatric Association (APA). Other classifications include Chinese classification of mental disorder, psycho-dynamic diagnostic manual, Latin American guide for psychiatric diagnosis etc. A survey of 205 psychiatrists, from 66 different countries across all continents, found that ICD-10 was more customarily used and more valued in clinical practice, while the DSM-IV was more valued for research [1].
DID is a complex condition. It is difficult to diagnose, and it is associated with a great deal of debate and misunderstanding, both within the public realm and within the scientific community; C.M. Traub says that DID is one of the most “controversial diagnoses” (Traub, 2009). This paper will examine the diagnosis, prognosis, origins, and therapies and possible treatments for DID. In addition, DID’s controversial nature is investigated.