A 40-year-old man who has been separated from his father since early childhood t

Question

A 40-year-old man who has been separated from his father since early childhood tells the nurse that his father recently contacted him to inform him that he is dying of Huntington disease. What is an essential component of care for this patient?

Assist the patient in determining signs of neuromuscular weakness

Instruct the man on treatment options for Huntington disease

Teach the man how to avoid passing Huntington disease to his own children

Provide genetic counseling, evaluation, and testing for the disease

A 40-year-old man who has been separated from his father since early childhood tells the nurse that his father recently contacted him to inform him that he is dying of Huntington disease. What is an essential component of care for this patient?

Assist the patient in determining signs of neuromuscular weakness

Instruct the man on treatment options for Huntington disease

Teach the man how to avoid passing Huntington disease to his own children

Provide genetic counseling, evaluation, and testing for the disease

Explanation / Answer

Hutington disease is an inherited condition in which nerve cells in the brain breaks down as age increases.

CARE OF PATIENT WITH HUNTINGTON DISEASE:

1. H.D patients has inability to intiated activity due to apathy, caregiver must involve in physical/ physiotherapy

2. Patients are unable to commuticate that they are having pain. so the caregiver must be attentive to nonverbal cues, body or skin changes eg. bruises, skin tears, broken bones even if the patient is not complaining of pain.

3. There is nutritional imbalance because of dusphagia therefore, nutritional chart should be followed provided by dietician.

4. In late stages, caregiver are bound to feed the person and need to be aware of need for altered food textures.

SIGNS OF NEUROMUSCULAR WEEKNESS

TREATMENT OPTIONS FOR HUNGTINGTON DISEASE:

Treatment depends on which stage the disease falls. There is no cure. Medicines, Physiotherapy and Speech therapy can manage the symptoms.

HEALTH TEACHING TO AVOID PASSING HUNTINGTON DISEASE TO HIS OWN CHILDREN:

ASSISTED FERTILITY TECHNIQUE:

In prenatal testing, a DNA sample is removed and tested after pregnancy has begun, then the pregnancy is only continued if the HD genetic test is negative.

In PGD, eggs and sperm are continued to form embryos in the lab. A single cell is removed from each embryo and genetically tested. only embryos with hungtinton mutation are implanted into the womb.

DIAGNOSTIC TESTING

Physical examination, genetic history, neurological examination, neuropsychological testing ie. memory, reasoning etc. Brain imaging.

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