Term
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Definition
- Micro-deletion syndrome (autosomal dominant, chromosome 7, encompasses elastin gene)
Clinical characteristics:
- Cardiovascular disease (pumonary stenosis)
- Connective tissue abnormalities
- Intellectual disabilities
- Over friendliness and anxiety
- Star-like pattern in eyes, broad forehead, shorter
- Hearing loss, and sensitivity to noise
- Endocrine abnormalities (hypercalcemia, hypothyroidism)
- Hoarse voice
- Risk of sudden death from heart defects |
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Term
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Definition
- AKA, 22q, velocardiofacial syndrome
- A micro-deletion syndrome
Characteristics include:
- Heart defects (tetrology of fallot, vsd, etc)
- Facial features (cleft palate, underdeveloped chin, wide-set eyes)
- Decreased immune system
- Delayed growth, ID
- Behavioral and emotional problems |
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Term
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Definition
- Monosomy X
- The majority of conceptions are lost prenatally
Clinical characteristics:
- Small stature, shield-like chest, webbed neck
- High functioning but maybe some learning differences
- Infertility
- Cardiac problems are common! |
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Term
| Ornithine Transcarbamylase (OTC) deficiency |
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Definition
- Inborn error of metabolism
- Urea cycle disorder. It results in the accumulation of ammonia in the blood since body can't remove nitrogen.
- X-linked
Clinical characteristics:
- Lethargy
- Seizures
- Vomiting
- Ongoing nerologic problems such as developmental delay, intellectual disability, ADHD
- Hyperammonemic coma (causes damage) and death possible
- Like other inborn errors of metabolism, can happen a few days after birth or be later onset. Often onset by stress.
- Protein restricted diet supplement essential amino acids |
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Term
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Definition
- A disease that alters the connective tissues in the body
- Fibrillin-1 point mutation
Clinical characteristics:
- Long arms, legs, fingers
- Sunken or protruding chests
- Flat feet
- Cardiac issues such as aortic root dilation (or dissection) or mitral valve prolapse
- Ectopia lentis (dislocated lenses) |
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Term
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Definition
- A disease that is characterized by spots on the skin
- Autosomal dominant, but 50% due to new mutations
Clinical characteristics:
- Dark spots on skin, small skin tumors called neurofibromas
- Lisch nodules, or benign growths in eyes
- Learning differences
- Malignancies happen about 10% of the time
- This disease is highly variable. For 2/3 of people it is a mild skin disorder. For about 1/12 it is life threatening. |
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Term
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Definition
- Inborn error of metabolism
- Autosomal recessive
Clinical characteristics:
- Hyperphenylalaneinemia (body can't break down phenylalanine, so there is a lot in the blood)
- Microcephaly
- Epilepsy
- Severe mental delays
- Urine will have a mousy smell
- Manage the protien diet and supplement essential amino acids |
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Term
| Osteogenesis Imperfecta (OI) |
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Definition
- A disease of improper bone formation
- Caused by mutations in the collagen forming genes
- Mostly autosomal dominant, some autosomal recessive
Clinical characteristics:
- Bones break easily
- Hearing loss
- Discolored sclerae (white part of the eye)
- A lot of variation, can be prenatal lethal or fairly mild |
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Term
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Definition
Autosomal dominant neurodegenerative disease. Leads to problems with movement, emotion, and cognition.
Clinical features include:
- Jerky, involuntary movements
- Speech or swallowing difficulties
- Slowed thinking
- Irritibility, mania, OCD, anxiety, depression
Pre-symptomatic testing is available.
The disease is due to an unstable CAG repeat, which can expand in successive generations causing anticipation. |
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Term
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Definition
Autosomal recessive. A disease caused by excessive absorption of iron. Symptoms begin 40-60 (after menopause in women).
Clinical features include:
- Hepatomegaly (large liver)
- Cirrhosis of the liver
- Diabetes
- Arrhythmia
- Arthritis
- Skin pigmentation
Later stages can cause liver disease and heart failure. It can be treated by bleeding.
Carrier frequency in Caucasians 1/9 but penetrance varies. |
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Term
| Early-Onset Familial Alzheimer's Disease |
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Definition
To be considered early onset, under age 65. Autosomal dominant. Makes up to 3-10% of Alzheimers.
Clinical features include:
- Confusion
- Memory loss, language deficits
- Agitation, withdrawal
- Hallucinations
- Seizures
- Increased muscle tone
Brain findings show increased B-amyloid plaque formation and intraneuronal neruofibrillary tangles.
There are gene panels, molecular testing, and predictive testing. |
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Term
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Definition
Most common type of muscular dystrophy in adults. Autosomal dominant trinucleotide repeat disorder (has premutations and mutations, more common to inherit through mother).
Clinical features:
- Myotonia is sustained muscle contraction, so inability to loosen grasp
- Cataracts
- Fatigue, pain
- Cardiac complications
- Lower IQ
- Hypersomnia
- Anxiety, depression
- Inverted V -shaped upper lip, droopy eyelids
Prenatal and molecular testing available. |
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Term
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Definition
MELAS stands for Mitochondrial encephalomyopathy, lactic acidosis, and seizure-like episodes. Mitochondrial inborn error of metabolism.
Clinical features include:
- Seizures
- Recurrent headaches
- Stroke-like episodes (can lead to loss of motor skills or intellectual disability)
- Lactic acidosis
- Abdominal pain, vomiting
- Exercise intolerance, muscle weakness
- Difficulty breathing
- RAGGED RED FIBERS
Mutation in mitochondrial DNA, disrupts respiratory chain. Therefore, mitochondrial inheritance.
Variety due to HETEROPLASMY |
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Term
| Young Onset Parkinson's Disease |
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Definition
If Parkinson's disease occurs before 50 it is considered young onset. In this case it is less likely to be multifactorially inherited and more likely to be due to a causative gene. These causative genes are numerous and can have any mode of inheritance.
Clinical features include:
- Motor symptoms like tremors, muscle rigidity, slow movement, involuntary movement
- Cognitive features like mood disorders, problems focusing, or hallucinations
- Other symptoms like pain, loss of sense of smell, or urinary urgency
- People with young onset Parkinsons will generally have more involuntary movement and fewer cognitive symptoms
Can be treated with replacement dopamine medication and therapies. Direct to consumer tests are available. |
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Term
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Definition
Stands for mitochondrial neurogastrointestinal encephalopathy.
Clinical features include:
- Gastrointestinal issues (pain, vomiting)
- Neuropathy (numbness, pain in extremities)
- Hearing loss
- Leukoencephalopathy (white brain matter disease)
- Droopy eyelids
Even though this is a mitochondrial disease it is AUTOSOMAL RECESSIVE. It is caused by not being able to break down thymidine, which builds up and hurts mitochondria.
To test for it, you can test for Thymidine Phosporylase Enzyme Activity or the level of thymidine. |
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Term
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Definition
Stands for Cerebral Autosomal Dominant Arteriopathy Subcortical Infaracts Leukoencephalopathy.
Clinical features include:
- Recurrent strokes
- Cognitive impairment
- Migraine with aura
- Psychiatric disturbances
Gene mutation causes smooth muscle cells on the walls of the arteries to break down. Progressive damage to blood vessels in the brain causes stroke and other symptoms.
Autosomal dominant, varies greatly. Genetic testing available. |
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Term
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Definition
History of conflict in the region and many patients may be refugees and/or have experienced trauma and loss
Very wide range of religious beliefs/practices, but beliefs about spiritual contributions to disease/treatment are common
Alternative medical practices are common,belief in “hot” and “cold” conditions and treatments
Many languages, may need a translator - consider gender and ethnicity when selecting a translator
Some common nonverbal Western practices (eye contact, touch) may be inappropriate, and nodding may not mean agreement |
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Term
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Definition
God’s will is important and valued
Likely to be stoic
English is a second language
Have self-insurance, so are likely to consider the community when making decisions
Children are a blessing no matter what
Do not prolong suffering/death is natural |
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Term
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Definition
There is a lot of variety in Chinese culture, and many dialects.
There is usually a patriarchal structure and large families (clans). The welfare of the family comes first.
There is reluctance to talk about personal feelings.
Hereditary factors are well-accepted, but patients may want to combine Eastern and Western medicine.
Mothers may be blamed for birth defects. |
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Term
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Definition
Many levels of Orthodoxy and involvement with the typical Jewish practices
Cultural Jewishness defined by mother
Avoid scheduling around holidays and Sabbath (no Friday/Saturday)
Pikuach Nefresh-health and life are of the uttermost importance even over cultural traditions/ceremonies
Dor Yeshorim (high prevalence of AR, so carrier status checked but not disclosed)
BRCA1/2 high prevalence |
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Term
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Definition
Typically speak Spanish, so an interpreter may be necessary
Mostly Roman Catholic. Use faith for reassurance. Forbid abortion and only use natural forms of birth control
Family is everything! Including the extended family. They will likely consult extended family when making decisions
Patriarchal. Mom takes care of the children.
Follow both folk healing & western medicine
Taught to avoid eye contact. And sit closer to you.
Low income, less education, many don’t have insurance |
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Term
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Definition
Dwarf” and “Little Person” are preferred terms
Dwarfism is not considered a community, not a disability, even though access issues are considered a problem
Complicated relationship with genetics: it can help prevent lethal double dominant pregnancies, but also can be used to prevent dwarfism |
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Term
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Definition
Not considered a culture
Visual aids/hand gestures/nonverbals may have little utility in a session
Generally support having option of genetic testing though some concerns about termination with prenatal testing
belief that quality of life is good enough that ToP not necessary but also often do not want to pass on to children |
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Term
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Definition
Surgeries are extensive - scary, intense, involved, and frequent
Confidence, self-esteem can be affected
Breathing, sleeping, speaking, eating, QOL affected by anatomy
Often have normal intelligence, just look different
Prenatal dx generally accepted and appreciated to prepare properly for birth |
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