Presentation
The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation. [ncbi.nlm.nih.gov]
Gastrointestinal
-
Nausea
In other cases there is a general weakness, dizziness, darkening in the eyes, sweating, nausea, reduced blood pressure, pulse falls. [ambulatoria.com.ua]
Dystonia may result from A genetic mutation (called primary dystonia) A disorder or drug (called secondary dystonia) Antipsychotic drugs and some drugs used to relieve nausea can cause various types of dystonia, including shutting of the eyelids, twisting [msdmanuals.com]
Some DRBs are used to treat nausea and dizziness, not psychosis. If the symptoms described below appear after taking oral medication, it is essential to discuss this immediately with the doctor who prescribed them. [dystonia.org.uk]
Nausea is the most common side effect of levodopa. However, this side effect should improve as your body starts to get used to the medication. [hse.ie]
-
Abdominal Pain
Duodenal ulcers are a common cause of abdominal pain. Once treated, they usually get better in a matter of weeks. What is a duodenal ulcer? A duodenal ulcer is a sore that forms in the lining of the duodenum. [healthdirect.gov.au]
When the peptic ulcer is perforated, there may be intense abdominal pain. What are the complications? Peptic ulcer with chronic bleeding may cause anaemia. Perforated peptic ulcer may cause peritonitis that needs emergency treatment. [chp.gov.hk]
Patients with perforated peptic ulcer disease usually present with a sudden onset of severe, sharp abdominal pain. (See Presentation.) [emedicine.medscape.com]
Musculoskeletal
-
Muscle Twitch
Symptoms & Diagnosis of Dystonia in Central California People with dystonia experience involuntary movements, such as a muscle twitch or tremor. Dystonia symptoms vary the specific type, muscle group(s) affected, and age of onset. [dignityhealth.org]
Neurologic
-
Dystonia
Recently, researchers have identified another genetic cause of dystonia which is due to mutations in the DYT6 gene. Dystonia caused by DYT6 mutations often presents as cranio-facial dystonia, cervical dystonia, or arm dystonia. [ninds.nih.gov]
[…] familial cases of DYT1 dystonia. [movementdisorders.org]
-
Stroke
Overall, more left-sided than right-sided strokes were observed with post-stroke lingual movement disorders including dystonia; however, the data were not significant (p 1). [ncbi.nlm.nih.gov]
In secondary dystonias due to injury or stroke, people often have abnormal movements of just one side of the body, which may begin at the time of the brain injury or sometime afterward. [web.archive.org]
-
Nasal Speech
Velopharyngeal dysfunction produces a nasal speech pattern because of the inability to close the nasal airway during speech, most often associated with anatomical abnormalities of the palate. [ncbi.nlm.nih.gov]
Patient 2 is a 61-year-old man who presented with two years of nasal speech. Marked improvement with trihexyphenidyl 12 mg/day was seen. Patients 3 and 4 demonstrate a variety of idiopathic lower cranial dystonias (iLCrD). [clinicalmovementdisorders.biomedcentral.com]
Workup
Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. [ncbi.nlm.nih.gov]
Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. [jnnp.bmj.com]
(See Workup.) Upper GI endoscopy is the preferred diagnostic test in the evaluation of patients with suspected peptic ulcer disease. [emedicine.medscape.com]
Treatment
Treatment A number of treatments or treatment combinations may alleviate symptoms of dystonia. Dopa-responsive dystonia Dopa-responsive dystonia is a secondary form of the disorder that often occurs in children and adolescents. [web.archive.org]
Medical treatment of dystonia. Mov Disord. 2013; 28 :1001–1012. [ PubMed ] [ Google Scholar ] 60. Jankovic J. Treatment of dystonia. Lancet Neurol. 2006; 5 :864–872. [ PubMed ] [ Google Scholar ] 61. Bhidayasiri R, Tarsy D. Treatment of dystonia. [ncbi.nlm.nih.gov]
Prognosis
Prognosis Dystonia is not fatal, but it is a chronic disorder and its prognosis is difficult to predict. [columbianeurosurgery.org]
Prognosis The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. [childneurologyfoundation.org]
Prognosis There is no effect on life expectancy, but quality of life is severely affected. The documents contained in this web site are presented for information purposes only. [orpha.net]
It is not intended to provide instruction and you should not rely on this information to determine diagnosis, prognosis or a course of treatment. It should not be used in place of a professional consultation with a doctor. [dystonia.org.uk]
Etiology
The second axis is structured as a database of different etiologies. By combining the two axes together each patient can be described in detail, taking into account clinical characteristics and etiological descriptors. [movementdisorders.org]
This article reviews the etiology and pathophysiology of the disease as well as medical and physical therapist management for people with cervical dystonia. [ncbi.nlm.nih.gov]
Epidemiology
Recent epidemiological studies indicate that there are more than 500 000 people across Europe with some form of the disorder, many of whom are unaware that they have dystonia. [dystonia-europe.org]
Summary Epidemiology It has been reported in two Amish-Mennonite families. Clinical description Adolescent and early-adult onset have been reported (average age of onset 19 years). The disease rarely progresses to generalized dystonia. [orpha.net]
CONCLUSIONS: These baseline analyses provide sizeable data regarding the epidemiology and clinical presentation of CD, and demonstrate an international heterogeneity of clinical practice. [ncbi.nlm.nih.gov]
Pathophysiology
Background: Pharmacological management of cervical dystonia (CD) is considered to be symptomatic in effect, rather than targeting the underlying pathophysiology of the disease. [ncbi.nlm.nih.gov]
Prevention
A splint was given to raise the bite and prevent repeated trauma and aid in healing of the oral tissue. This paper highlights the importance of pediatric dentist's role in improving quality of patient care in an intensive care unit. [ncbi.nlm.nih.gov]
Prevention Even though you may not be able to prevent dystonia, genetic testing can reveal if you have a genetic mutation that can cause dystonia. [columbianeurology.org]
Although this may not prevent or stop a spasm, touching can distract or trick the brain and reduce the length and intensity of a muscle contraction. [epda.eu.com]
These may include: Training you to walk with regular steps to improve your safety and prevent falls Working with you to safely transfer on and off of chairs and toilets to help you to be more independent Working to improve balance and prevent accidental [wexnermedical.osu.edu]