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GERSTMANN- STRAUSLLER- SCHEINKER SYNDROME

Gerstmann-Straussler-Scheinker Syndrome (GSS) is an extremely rare, neurodegenerative brain disorder. A rare prion disease which is a familial form of CreutzfeldtJakob syndrome. A widespread degeneration of the nervous system, starting usually in the fourth or fifth decade of life. The syndrome was first described in 1936 by the Austrian neurologists Josef Gerstmann, Ernst Straussler and Ilya Mark Scheinker. The syndrome is now known to be a form of transmissible spongiform encephalopathy (TSE), a prion disease. Death follows 2 to 10 years after the onset of symptoms. The exact incidence of GSS is unknown but is estimated to be between 1 to 10 per 100 million. Incidence of this disease is quite low around the world, and your chances of having it are extremely slim. Only a few families have a documented history of Gerstmann-StrausslerScheinker, and it does not always emerge in people who are related to each other. Because incidence of the disease is rare, scientists have not invested heavily in trying to find a cure, although a cure may someday be realized through gene therapy which addresses the genetic component of the disease, stopping it before it even begins. Such therapy could also potentially be used to treat victims of other TSEs. In the early stages, patients may experience: Varying levels of ataxia (lack of muscle coordination) Clumsiness Unsteadiness Difficulty walking.

As the disease progresses, the ataxia becomes more pronounced and most patients develop dementia. Other symptoms may include: Dysarthria (slurring of speech) Nystagmus (involuntary movements of the eyes) Spasticity (rigid muscle tone) Visual disturbances, sometimes leading to blindness Deafness In some families, parkinsonian features are present

Diagnostic Procedures: Brain Biopsy or Autopsy Immunohistologic and Genetic Studies Tonsil Biopsy Electroencephalography Cerebrospinal Fluid Testing

Positron Emission Tomography

Treatment: There is no cure for GSS, nor are there any known treatments to slow progression of the disease. Current therapies are aimed at alleviating symptoms and making the patient as comfortable as possible. Prognosis: GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow. The most common cause of death for a patient with Gerstmann-Straussler-Scheinker is a secondary infection which is caused by the body's inability to cope with infections, with some families choosing to remove comatose patients from life support, since there is no expectation of recovery. Like other TSEs, Gerstmann-Straussler-Scheinker can be difficult to identify while the patient is alive, as an autopsy and examination of the brain tissue is needed to confirm diagnosis. Patients are typically diagnosed with Gerstmann-Straussler-Scheinker when they have a family history of the disease and they exhibit the required symptoms without recovering from treatments which could address other causes of these symptoms.

In Partial Fulfillment In the Subject NCM104

A Nursing Care Plan on Gerstmann- Straussler- Scheinker Syndrome

Submitted by: Toledo, Jessica Ann

Submitted to: Bryan K. Dimen, RN

March 26, 2012

Nursing Diagnosis Diagnosis: Impaired physical mobility (functional classification level 4) related to late stage neuromuscular impairment as manifested by uncoordinated movements

Analysis Neuropathology: An identified predisposing factor of gerstmannstraussler-scheinker syndrome is genetics wherein it is said to be transmitted through prion gene. Transmissiion of this type of gene results to a human progressive neurodegenerative disease. A prion gene is a type of gene composed of proteins in misfolded form transmitted through autosomal dominant pattern. Once transmitted, this type of gene allows the transcription of widespread centric amyloid plaques. Amyloid plaques deposition creates neuritic plaques which is not conducive for transmitting impulse. It affects both the afferent and efferent neurons. Further progress of the disease results to white matter degeneration manifested by

Planning Goal: To be able to prevent complications related to immobility such s contractures, hypostatic pneumonia , bed sore and constipation after 48 hours of nursing intervention. Objectives: a.) Prevent contractures.

Intervention

Rationale

Evaluation Goal of care, to be able to prevent complications related to immobility such s contractures, hypostatic pneumonia , bed sore and constipation after 48 hours of nursing intervention was fully met as manifested by: (-) contractures Absence of signs and symptoms related to hypostatic pneumonia

CUES Subjective: Nahihirapan na ako kumilos, pahina ng pahina ang katawan ko. As verbalized by the client in a slurring manner. mas gusto niyang humiga na lang sa

Position the patient properly. a. Place trochanter roll from the ilac crest to the midthigh.

This is to prevent contractures specifically preventing external rotation. (Kozier and Erbs Fundamental of Nursing 8th Edition, Volume II, Chapter 44: Activity and Exercise, page 1118)

(-) decubitus ulcer Normal bowel activity, (+) defecation once

kama dahil nahihirapan siayang kumilos, as manifested by the clients wife.

neuromuscular debility from mild signs such as clumsiness, unsteady gait. It could also affect muscles for speech resulting to dysarthria. It may affect extraocular muscles resulting to nystagmus and eventually visual Objective: -Slurred speech disturbance. Spinal nerves -muscle may also be affected strength grade resulting sensory losses. +2 of the upper Motor neurons has a extremities decreased capability to - bilateral transmit impulse resulting spastc paralysis to paralysis. In the latter of the lower part of the disease extremities respiratory muscles may be -inability to affected resulting to stand respiratory depression and -Limited ROM respiratory arrest. -Slowed movement Implications: Complications such as hypostatic pneumonia, contractures, pressure ulcers and constipation may result impaired physical mobility will not be treated. Hypostatic pneumonia is pneumonia that usually results from the

b.) Prevent signs and symptoms of hypostatic pneumonia.

a.) Turn the patient every 2 hours.

Turning promotes mobilization of mucus in the respiratory tract. Promotes expectoration of accumulated mucus. Promotes mobilization of mucus in the respiratory tract. Decreases viscosity of mucus in the upper respiratory tract. (Kozier and Erbs Fundamental of Nursing 8th Edition, Volume II, Chapter 44: Activity and Exercise, page 1119)

a day

b.) Teach the patient coughing exercises.

c.) Perform back tapping.

d.) Increase oral fluid intake with aspiration precautions

collection of fluid in the dorsal region of the lungs and occurs especially in those confined to a supine position for extended periods. Muscle atrophy, disuse leads to decreased muscle size, tone, and strength. Contracture, due to decreased joint movement leads to permanent shortening of muscle tissue, resistant to stretching. The strong flexor muscles pull tight, causing a contraction of the extremity or a permanent position of flexion. Thrombus and embolus formation caused by slow flowing blood, which may begin clotting within hours, and an increased rate in the coagulation of blood. During periods of immobility, calcium leaves bones and enters the blood, where it has an influence on blood coagulation. Altered digestion and utilization of nutrients resulting in constipation.

c. Prevent occurrence of bedsore

a.) Turn the patient every 2 hours. b.) Continuous assessment of skin integrity especially in the high pressure areas of the body like lumbar and sacral area c.) Provide a high protein diet

Turning promotes blood circulation . Assessment of early changes in the integrity of the skin allows prompt treatment.

High protein diet decreases the chance of developing pressure ulcers. (Kozier and Erbs Fundamental of Nursing 8th Edition, Volume II, Chapter 36: Skin Integrity and Wound Care, page 909)

d. Promote normal bowel activity.

a. Increase fiber in the diet

Fiber enhances digestion by attracting water and forming gel in the gastrointestinal tract that enhances peristalsis

b. Increase oral fluid intake with aspiration precautions.

Water promotes digestion of food particles by creating a lubricated food bolus. Privacy is needed in order to promote normal activity. (Kozier and Erbs Fundamental of Nursing 8th Edition, Volume II, Chapter 49: Fecal Elimination, page 1327)

c. Provide privacy during defecation