What is pretzel syndrome?

Pretzel syndrome (PMSE) is a very rare genetic disorder, mostly seen in Old Order Mennonites, characterized by severe neurological issues like intractable seizures, severe hypotonia (low muscle tone), and significant cognitive delays, along with brain malformations (megalencephaly), fluid buildup (polyhydramnios), and sometimes skeletal or heart issues. It's caused by mutations in the LYK5 gene, leading to overactive mTOR signaling, which disrupts brain development, but early treatment with rapamycin shows promise in reducing seizures.

What is the pretzel syndrome in Amish?

"Pretzel syndrome" (also known as PMSE or Polyhydramnios, Megalencephaly, Symptomatic Epilepsy syndrome), is a rare genetic disorder found primarily in Old Order Mennonite/Amish communities, causing severe infantile epilepsy, developmental delays, and a distinctive "pretzel-like" posture due to very flexible joints and weak muscles. It's caused by mutations in the LYK5/STRADA gene, leading to uncontrolled cell growth signaling (mTORC1), resulting in brain malformations, large head size (megalencephaly), and other issues like polyhydramnios (excess amniotic fluid) during pregnancy. 

What causes pretzel syndrome?

Pretzel syndrome is characterized by epi- lepsy, cognitive delay and a series of neuroana- tomical abnormalities. The disease is caused by mutations in LYK5, which encodes an inhib- itor of the mammalian target of rapamycin complex 1 (mTORC1).

What are the first signs of Angelman syndrome?

Characteristics of Angelman syndrome

• frequent laughter and smiling, often with little stimulus.
• being easily excitable, often flapping the hands.
• being restless (hyperactive)
• having a short attention span.
• trouble sleeping and needing less sleep than other children.
• a particular fascination with water.

What is the rarest seizure disorder?

Dravet syndrome is a rare disease, with an estimated incidence rate of 1:15,700, with the majority of patients carrying a mutation in the sodium channel gene SCN1A [1]. Dravet syndrome is classified as a developmental and epileptic encephalopathy (also known as a DEE).

Coat Hanger Phenomenon and The Pretzel Leg Sign (14 of 24)

What are the 3 C's for seizures?

The "3 Cs" in epilepsy refer to simple seizure first-aid steps: Calm, Cushion, Call, guiding bystanders to stay calm, cushion the person's head to prevent injury, and call emergency services if the seizure lasts over five minutes or if it's the person's first seizure. These steps help manage the situation, protect the individual, and ensure proper medical attention is sought when necessary. 

What's the worst seizure you can have?

The "worst" seizure is often considered status epilepticus, a prolonged seizure (over 5 minutes) or repeated seizures without regaining consciousness, which is a life-threatening emergency risking brain damage or death, often stemming from severe, uncontrolled epilepsy, especially generalized tonic-clonic (grand mal) seizures. Other dangerous complications include Sudden Unexpected Death in Epilepsy (SUDEP), typically linked to frequent tonic-clonic seizures or poorly managed epilepsy, and injuries from violent convulsions or impaired breathing during seizures. 

What is 90% of autism caused by?

About 90% of autism risk is attributed to genetic factors, making it highly heritable, but it's a complex mix where multiple genes interact with environmental influences like parental age, prenatal infections, or toxin exposure, rather than one single cause for most cases, with genes influencing brain development and environment acting as triggers or modifiers. 

What are the facial features of a baby with Angelman syndrome?

Angelman syndrome facial features in babies, while not always obvious at birth, often develop into a distinct look with a small head (microcephaly), flat back of the head, wide mouth, protruding tongue, deep-set eyes, and widely spaced teeth, often accompanied by lighter skin, hair, and eyes, plus a happy demeanor and developmental delays.
 

What are five genetic diseases?

Five common genetic diseases are Cystic Fibrosis, affecting lungs/digestion; Sickle Cell Disease, impacting red blood cells; Huntington's Disease, causing nerve cell breakdown; Down Syndrome, a chromosomal condition; and Hemophilia, affecting blood clotting, illustrating the variety from single-gene to chromosomal disorders.
 

What is the most inherited mental illness?

While many conditions have genetic links, Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder (ASD) consistently rank as the most heritable mental illnesses, with some estimates placing bipolar disorder's heritability as high as 80-85% and ASD around 70-90%, followed closely by schizophrenia. These severe conditions involve complex genetics, often sharing risk factors with each other and major depression, though environment also plays a crucial role.
 

What is the Amish seizure disorder?

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well ...

Who is most prone to seizures?

Anyone can have a seizure, but people are most likely to experience them if they are young children, older adults (over 60), have a family history of epilepsy, or have a brain injury, tumor, stroke, or infection, with risk factors like genetics, stress, lack of sleep, and alcohol/drug use increasing likelihood. Older adults have the highest rate of new onset epilepsy due to conditions like stroke or tumors, while kids often have genetic/developmental causes.
 

What blood types does Amish have?

The more completely studied Amish community, that of Lancaster Co., Pa., revealed higher A and lower O phenotype frequencies than found in the Amish of Holmes Co., Ohio. In both groups, about one-fourth of individuals are Rh negative.

Do Amish use birth control?

Amish culture generally discourages modern birth control, viewing large families as blessings from God, but practices vary, with some families quietly using natural family planning (like the rhythm method) or even condoms, especially for health reasons or spacing, though it's often a sensitive, unspoken topic. While many have large families due to faith and the need for farm labor, a minority of Amish women use contraception, with one study finding 21% admitted to using condoms, showing a gap between official rules and private actions. 

What diseases does Amish inherit?

Health among the Amish is characterized by higher incidences of particular genetic disorders, especially among the Old Order Amish. These disorders include dwarfism, Angelman syndrome, and various metabolic disorders, such as Tay-Sachs disease, as well as an unusual distribution of blood types.

What celebrity son has Angelman syndrome?

He has a son, James Padraig Farrell, born on 12 September 2003, with American model Kim Bordenave. In October 2007, he said that his son has Angelman syndrome, a rare genetic disorder characterised by intellectual and developmental delay, lack of speech, and an excitable demeanour.

Which parent carries Angelman syndrome?

Angelman Syndrome (AS) is primarily linked to the maternal chromosome 15, specifically the loss or malfunction of the maternal copy of the UBE3A gene, which is crucial for brain development due to a process called genomic imprinting where only the maternal copy is active in neurons. While most cases involve a maternal deletion or mutation, rare instances can occur from inheriting two paternal chromosome 15s (paternal uniparental disomy), but the core issue is the lack of the functional maternal UBE3A gene in the brain.
 

What does a child with Marfan syndrome look like?

Marfan syndrome is often distinguishable by specific physical traits that may become more noticeable as a child grows. Children with Marfan syndrome are usually tall and thin, with long arms, long double-jointed fingers, a short torso, and very long legs.

What is the 6 second rule for autism?

The "6-second rule" for autism is a communication strategy where you pause for about six seconds after asking a question, giving an autistic person time to process the information and formulate a response, reducing anxiety and pressure often felt in fast-paced social interactions. This pause allows their brain to catch up, especially with sensory overload or processing differences, leading to clearer communication and preventing the need to repeat the question immediately. 

Why do so many people suddenly have autism?

The "spike" in autism diagnoses isn't necessarily more children having autism, but rather better identification due to broader diagnostic criteria, increased awareness, improved screening, and more services available, catching milder cases missed before, though environmental factors and genetics may also play roles, with recent data showing rising rates in less severe/diverse groups, according to experts from Johns Hopkins, Harvard, and PBS. 

What are the 12 signs of autism in adults?

While there's no official "12 signs" list, common adult autism traits fall into communication/social challenges (like literal thinking, difficulty with small talk, poor eye contact, understanding sarcasm) and restricted/repetitive behaviors (intense special interests, strict routines, sensory sensitivities, need for order, meltdowns/shutdowns) often involving masking, which can make them appear socially awkward or blunt without meaning to.
 

What is the rule of 3 for seizures?

The "Rule of Three" for seizures has two main meanings: the 3 S's (Stay, Safe, Side) for first aid, reminding you to stay with the person, make them safe, and put them on their side; and a more complex clinical definition by the ILAE (epilepsy league) for declaring seizure freedom, meaning a patient is seizure-free if they haven't had a seizure for three times their longest gap between seizures in the last year, suggesting successful treatment. A common medical trigger for emergency action is three or more seizures in 24 hours, or any seizure over 5 minutes.
 

What is the aura before a seizure?

An aura before a seizure is a warning sign, a type of focal seizure, involving unusual sensations like strange smells, flashing lights, a rising feeling in the stomach, déjà vu, sudden fear, tingling, or out-of-body feelings, indicating a seizure is about to start, though sometimes it's the only seizure experienced. These symptoms stem from a small area of the brain and can last from seconds to an hour, helping people recognize and prepare for a full seizure.
 

What type of seizure has the highest risk of death?

The type of seizure most likely to cause death is the generalized tonic-clonic seizure (GTC), also known as a grand mal seizure, due to the high risk of Sudden Unexpected Death in Epilepsy (SUDEP), often linked to respiratory and cardiac arrest after the seizure. The risk of SUDEP significantly increases with the frequency of these seizures, especially if they occur at night or while sleeping, and if anti-epileptic medication isn't taken consistently.