Duchenne Muscular Dystrophy (DMD)
Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness.
It primarily affects boys and is caused by mutations in the dystrophin gene, which is essential for maintaining the structural integrity of muscle cells.
The main symptoms of DMD typically appear between the ages of 2 and 6 and may include:
1.
Difficulty walking or running
2.
Frequent falls
3.
Muscle weakness, particularly in the hips, pelvis, and legs
4.
Delayed motor skills
5.
Gait abnormalities, such as waddling
6.
Enlarged
I'm sorry, 20~29 year old female. Ask Date: 2003/07/01
Dr. Chen Meizhu reply Psychiatry
Hello: I apologize for the delayed response as I did not receive your email until September 4th, when it was forwarded from the central office.
The exact cause of Tourette syndrome has not yet been definitively established, but many studies suggest that it is related to an imbalance of neurotransmitters in the brain, specifically the hyperreactivity of dopamine in the basal ganglia, which leads to involuntary movements and vocal tics.
Psychological and environmental factors may also influence the severity and course of the condition, but they are not considered the causes of the tics.
Tourette syndrome is characterized by chronic, recurrent, semi-involuntary movements and vocal tics, which can occur in a sequence or as a combination of simple to complex actions.
Common manifestations of tics include rapid and brief eye blinking, puckering of the lips, making faces, shoulder shrugging, head shaking, throat clearing, nose blowing, shouting, and uttering phrases similar to expletives, or a series of more complex curse sounds.
Sometimes, the behaviors can become complex enough to include touching others, jumping while walking, engaging in obscene gestures, or self-harm.
Treatment for Tourette syndrome should prioritize addressing its comorbidities, such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and depression.
As for the treatment of Tourette syndrome itself, medication is only considered when the condition significantly impacts the individual's social functioning or daily living activities.
Behavioral therapies related to tics are often difficult to implement and may yield limited results, serving mostly as adjunctive treatments.
For more information on Tourette syndrome, you may refer to the book "Tourette Syndrome: A Guide for Patients and Families" by Dr.
Wang Hui-Hsiung.
Thank you for your letter.
Reply Date: 2003/07/01
More Info
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by the presence of multiple motor tics and one or more vocal tics over a period of time. It typically manifests in childhood, with symptoms often appearing between the ages of 5 and 10. The exact cause of Tourette Syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Family history plays a significant role, as TS tends to run in families, suggesting a hereditary component. Neurotransmitters, particularly dopamine, are thought to be involved in the disorder's pathophysiology, as they play a crucial role in regulating movement and behavior.
The symptoms of Tourette Syndrome can vary widely among individuals. Motor tics may include simple movements such as blinking, head jerking, or facial grimacing, as well as more complex movements like jumping or touching objects. Vocal tics can range from simple sounds like throat clearing or grunting to more complex utterances, including words or phrases. In some cases, individuals with TS may also exhibit coprolalia, which is the involuntary utterance of socially inappropriate words or phrases, though this symptom is not present in all cases.
Diagnosis of Tourette Syndrome is primarily clinical, based on the observation of tics and the patient's medical history. There are no specific laboratory tests to confirm TS, but healthcare providers may conduct assessments to rule out other conditions that could cause similar symptoms, such as other tic disorders, obsessive-compulsive disorder (OCD), or attention-deficit/hyperactivity disorder (ADHD).
Treatment for Tourette Syndrome is tailored to the individual, as the severity of symptoms can vary greatly. In many cases, treatment may not be necessary if the tics are mild and do not interfere significantly with daily life. However, when treatment is required, options may include behavioral therapies, such as Comprehensive Behavioral Intervention for Tics (CBIT), which focuses on teaching individuals to manage their tics through awareness and competing responses.
Medications may also be prescribed to help control tics, particularly in cases where they are severe or cause significant impairment. Commonly used medications include antipsychotics like haloperidol and pimozide, as well as alpha-2 adrenergic agonists like clonidine and guanfacine. Each medication has its own side effect profile, and treatment should be closely monitored by a healthcare professional.
In addition to behavioral and pharmacological treatments, support from family, educators, and mental health professionals can be invaluable in helping individuals with Tourette Syndrome navigate the challenges they may face. Psychoeducation about the disorder can help reduce stigma and promote understanding among peers and family members.
Overall, while Tourette Syndrome can present challenges, many individuals with TS lead fulfilling lives, and with appropriate support and treatment, they can manage their symptoms effectively. If you suspect that you or someone you know may have Tourette Syndrome, it is essential to consult a healthcare provider for a comprehensive evaluation and to discuss potential treatment options.
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