Dylan's syndrome?
Doctor: Hello, your daughter is currently 4 years old.
She has been receiving speech therapy (ST) and occupational therapy (OT) since she was 3 years old.
Her EEG and hearing tests are normal.
For safety reasons, she has been on medication to control seizure episodes since May 95.5 and currently shows no abnormalities.
The therapist mentioned that your daughter may possibly have "Dylan's Syndrome." How can this be determined? If so, is the cause related to factors during pregnancy? Please let me know.
Thank you!
mei, 30~39 year old female. Ask Date: 2006/12/17
Dr. Lin Guanglin reply Rare Disease
Are you referring to De Lange syndrome? It is characterized by symptoms such as synophrys (unibrow), thin and downturned lips, limb malformations, hirsutism, hearing impairment, and below-average intelligence, which are generally sporadic.
The gene associated with De Lange syndrome was discovered in 2004 and published in the journal Nature Genetics, known as NIPPED-B-LIKE (NIPBL), located on the short arm of chromosome 5.
There is a website with many reference materials: http://www.cdlsusa.org/.
Please consult your physician and a geneticist.
Reply Date: 2006/12/17
More Info
Dystonia is a movement disorder characterized by sustained muscle contractions, abnormal postures, or twisting movements. In children, it can manifest in various forms and may be associated with other neurological conditions. Diagnosing dystonia, especially in young children, can be complex and typically involves a combination of clinical evaluation, medical history, and sometimes genetic testing.
In the case of your daughter, who is currently four years old and has been receiving speech therapy (ST) and occupational therapy (OT) since she was three, it is essential to consider several factors in determining whether she may have a condition like Dystonia or De Lange syndrome, which you mentioned. The normal results from EEG (electroencephalogram) and hearing tests are positive indicators, as they suggest that there are no significant neurological issues or hearing impairments that could contribute to her symptoms.
To diagnose dystonia, a healthcare provider will typically look for specific clinical signs, including:
1. Movement Patterns: Observing the child’s movements to identify any abnormal patterns or postures.
2. Family History: Understanding if there are any genetic predispositions or family history of movement disorders.
3. Response to Treatment: Evaluating how the child responds to medications or therapies aimed at controlling muscle contractions or spasms.
4. Neurological Examination: A thorough neurological examination to assess muscle tone, coordination, and reflexes.
In some cases, genetic testing may be recommended, especially if there is a suspicion of a hereditary condition like Dystonia or De Lange syndrome. De Lange syndrome is characterized by growth delays, distinctive facial features, and various physical and developmental challenges. Genetic mutations, particularly in the NIPBL gene, have been associated with this syndrome.
Regarding the causes of dystonia or conditions like De Lange syndrome, it is essential to note that while some genetic disorders can be influenced by factors during pregnancy, such as maternal health, environmental exposures, or infections, many cases arise spontaneously due to genetic mutations that are not necessarily linked to prenatal factors. Therefore, it is not accurate to say that these conditions are solely caused by events during pregnancy.
For your daughter, it would be beneficial to continue working closely with her healthcare providers, including neurologists and geneticists, to monitor her development and any symptoms she may exhibit. They can provide a comprehensive evaluation and determine if further testing is necessary. Additionally, engaging with specialists in movement disorders may offer more insights into her condition and potential treatment options.
In summary, diagnosing dystonia or related syndromes in children involves a multifaceted approach that includes clinical evaluation, family history, and possibly genetic testing. While some conditions may have genetic origins, many factors contribute to their development, and ongoing communication with healthcare professionals is crucial for effective management and support.
Similar Q&A
Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?
My daughter is 12 years old. Last summer, her right leg started to shake involuntarily. The duration varies; sometimes it stops after 5 minutes, and other times it can last for 25 hours. All physical examinations have come back normal. Could this be Tourette syndrome?
Dr. Chen Shunsheng reply Rare Disease
The following conditions can cause tremors in the hands and feet: 1. Tourette syndrome 2. Focal motor epilepsy 3. Peripheral nerve dysfunction: Often seen in various early peripheral neuropathies, commonly accompanied by muscle cramps or twitching symptoms 4. Essential tremor: A ...[Read More] Understanding Rare Diseases: Is My Daughter's Condition Tourette Syndrome?
Understanding Rare Childhood Mental Health Disorders: A Case Study
Wei-Wei is currently 10 years old. Since childhood, she has been diligent in her tasks, focused in her studies, and has performed well academically with no behavioral issues. However, starting in the fourth grade, her grades began to decline. Her backpack resembles a trash bag, a...
Dr. Lin Guanglin reply Rare Disease
It could be Tourette syndrome, but other conditions need to be ruled out. Please visit a pediatric neurology clinic.[Read More] Understanding Rare Childhood Mental Health Disorders: A Case Study
Understanding Dance Disorder: Rare Disease Insights and Support Options
My eldest son just turned twenty this year. When he was in the first year of junior high school, he frequently exhibited strange movements, with episodes of his limbs freezing and being unable to move suddenly. A neurologist diagnosed him with chorea, but the information I found ...
Dr. Chen Shunsheng reply Rare Disease
Possible diagnoses based on the symptoms described include: 1. Paroxysmal choreoathetosis - can be controlled with medication. 2. Tic disorder or Tourette syndrome - can be controlled with medication. 3. Sydenham's chorea - can be treated with medication. 4. Huntington'...[Read More] Understanding Dance Disorder: Rare Disease Insights and Support Options
Understanding Tourette Syndrome: Causes and Treatment Options
My son has been diagnosed with suspected Tourette syndrome, experiencing intermittent twitching in his right hand and occasional rightward eye movement that causes his head to turn to the right. Could you please provide information on the causes and treatment options? Thank you, ...
Dr. Huang Yingzhe reply Neurology
It is currently believed that excessive dopamine reactivity is caused by genetic factors, often associated with Attention Deficit Hyperactivity Disorder (ADHD) or Obsessive-Compulsive Disorder (OCD). Pharmacological treatment also targets the involuntary movements and associated ...[Read More] Understanding Tourette Syndrome: Causes and Treatment Options
Related FAQ
Tourette Syndrome
(Rare Disease)
Neurology(Rare Disease)
Congenital Metabolic Disorders(Rare Disease)
Disease Name(Rare Disease)
Muscular Diseases(Rare Disease)
Height(Rare Disease)
Hair(Rare Disease)
G6Pd Deficiency(Rare Disease)
Whole Exome Sequencing(Rare Disease)
Newborn Screening(Rare Disease)