Treatments for Refsum Disease
Treatments for Refsum Disease
The list of treatments mentioned in various sources
for Refsum Disease
includes the following list.
Always seek professional medical advice about any treatment
or change in treatment plans.
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Discussion of treatments for Refsum Disease:
Genes and Disease by the National Center for Biotechnology (Excerpt)
Our bodies can not synthesize phytanic acid: we have to obtain all of it from our food. Therefore, prolonged treatment with a diet deficient in phytanic acid can be beneficial.
(Source: Genes and Disease by the National Center for Biotechnology)
NINDS Refsum Disease Information Page: NINDS (Excerpt)
Treatment for Refsum disease includes restricting foods
that contain phytanic acid. Plasmapheresis (the removal and reinfusion of
blood plasma) may also be required.
(Source: excerpt from NINDS Refsum Disease Information Page: NINDS)
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Book Excerpts: Treatment of Refsum Disease
Treatments of Refsum Disease: Online Medical Books
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Ataxia:
Treatment
(In a Page: Signs and Symptoms)
-
Specific symptomatic measures to improve gait stability and efficiency may improve functional abilities
–Assistive devices (e.g., canes, walkers, wheelchairs)
–Orthotics (e.g., ankle-foot orthoses for foot drop)
–Physical therapy
Removing intoxicating substances if present
Orthopedic pathologies may be resolved by rest, casting or orthotics, NSAIDs, or surgical therapy
Peripheral neuropathy/mononeuropathy: Treat the underlying cause to improve gait or prevent worsening
Radiculopathy: Physical therapy, medications (e.g., NSAIDs, muscle relaxants), local injection therapies (e.g., epidural injections), and/or surgical intervention
Myelopathy: Treating the underlying cause may improve or prevent worsening of gait; spasticity may be treated with antispasticity agents (e.g., baclofen)
Structural lesions of the brainstem, cerebellum, or cerebrum should be identified and treated if possible (e.g., multiple sclerosis)
» READ BOOK EXCERPT ONLINE »
Source: In a Page: Signs and Symptoms, 2004
Ataxia:
Treatment
(In A Page: Pediatric Signs and Symptoms)
-
In most cases, the treatment will be supportive
-
Exogenous toxins should be stopped and removed
-
Neoplasms, abscesses, hemorrhage require neurosurgical evaluation and intervention
-
Patients with Friedreich ataxia and mitochondrial disease need cardiac evaluation
-
Miller-Fisher variant of Guillain-Barré syndrome
–Usually has a very good prognosis
–IV immunoglobulin or plasmaphoresis may be used
-
Opsoclonus/myoclonus syndrome
–Treated with steroids, ACTH, or IVIG
–Neuroblastoma needs surgical evaluation
-
ADEM: Treat with high-dose intravenous steroids
-
AVED: Treat with vitamin E
-
Biotinidase deficiency: Treat with biotinidase
-
Hartnup disease: Treat with niacin
-
Refsum disease: Dietary restriction of phytanic acid
-
Epidosic ataxia: Treat with acetazolamide
» READ BOOK EXCERPT ONLINE »
Source: In A Page: Pediatric Signs and Symptoms, 2007
Ataxia:
Emergency interventions
(Handbook of Signs & Symptoms (Third Edition))
If ataxic movements suddenly develop, examine the patient for signs of increased intracranial pressure and impending herniation. Determine his level of consciousness (LOC), and be alert for pupillary changes, motor weakness or paralysis, neck stiffness or pain, and vomiting. Check his vital signs, especially respirations; abnormal respiratory patterns may quickly lead to respiratory arrest. Elevate the head of the bed. Have emergency resuscitation equipment readily available. Prepare the patient for a computed tomography scan or surgery.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Signs & Symptoms (Third Edition), 2006
Ataxia:
Emergency interventions
(Professional Guide to Signs & Symptoms (Fifth Edition))
If ataxic movements develop suddenly, examine the patient for signs of increased intracranial pressure and impending herniation. Determine his level of consciousness (LOC), and be alert for pupillary changes, motor weakness or paralysis, neck stiffness or pain, and vomiting. Check vital signs, especially respirations; abnormal respiratory patterns may quickly lead to respiratory arrest. Elevate the head of the bed. Have emergency resuscitation equipment readily available. Prepare the patient for a computed tomography scan or surgery.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Ataxia:
Nursing considerations
(Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series)
Assess the patient’s neurologic status frequently. Prepare the patient for laboratory studies, such as blood tests for toxic drug levels and radiologic tests. Then focus on helping the patient adapt to his condition; refer him to psychiatric consultation if ordered. Promote rehabilitation goals set forth by the physical, occupational, and speech therapists, and implement safety measures. Refer the patient with progressive disease for counseling, if appropriate.
Patient teaching
Instruct the patient with sensory ataxia to move slowly, especially when turning or rising from a chair. Provide a cane or walker for extra support. Ask the patient’s family to assess his home for safety hazards, such as uneven surfaces or the absence of handrails on stairs. Refer the patient for home care follow-up nursing and rehabilitative services as ordered.
» READ BOOK EXCERPT ONLINE »
Source: Alarming Signs and Symptoms: Lippincott Manual of Nursing Practice Series, 2007
Ataxia:
Emergency Actions
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
If ataxic movements suddenly develop, examine the patient for signs of increased intracranial pressure and impending herniation. Determine his level of consciousness (LOC), and be alert for pupillary changes, motor weakness or paralysis, neck stiffness or pain, and vomiting. Check vital signs, especially respirations; abnormal respiratory patterns may quickly lead to respiratory arrest. Elevate the head of the bed. Have emergency resuscitation equipment readily available. Prepare the patient for computed tomography scanning or surgery.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
Ataxia:
Nursing considerations
(Nursing: Interpreting Signs and Symptoms)
▪ Prepare the patient for laboratory studies, such as blood tests for toxic drug levels and radiologic tests.
▪ If toxic drug levels are the cause, stop the drug.
▪ Encourage physical therapy to improve function following a stroke.
▪ If the patient has a brain tumor, prepare him for surgery, chemotherapy, or radiation therapy.
Patient teaching
▪ Explain the underlying cause and treatment plan.
▪ Teach the patient and family about ways to promote safety, such as providing a cane or walker for extra support and moving slowly, especially when turning or getting up from a chair.
▪ Ask the patient's family to check his home for hazards, such as uneven surfaces or the absence of handrails on stairs.
▪ If appropriate, refer the patient with progressive disease for counseling.
» READ BOOK EXCERPT ONLINE »
Source: Nursing: Interpreting Signs and Symptoms, 2007
Ataxia:
Ataxia - TREATMENT
(The 5-Minute Pediatric Consult)
- As indicated for any underlying condition; precautions and limitation of activity to decrease the chance of injury/aspiration
- Steroids (2 mg/kg IV prednisolone) and IVIG (400 mg/kg/d for 5 days) have been used for ADEM, although there is no proven benefit.
- Immunomodulatory therapies have been tried (steroids, plasmapheresis, IVIG) for postviral cerebellitis and for paraneoplastic ataxia-opsoclonus/myoclonus, which may persist long after therapy for the tumor.
- Acetazolamide may be helpful for familial periodic ataxia; amantadine and buspirone may provide symptomatic relief in Friedreich ataxia; most drugs useful for tremor can be helpful for cerebellar tremor.
- Antioxidant therapy (coenzyme Q10, idebenone) may help the cardiomyopathy and possibly slow disease progression in Friedreich’s ataxia.
- Replacement therapies may stabilize or reverse ataxia in some conditions (deficiencies of vitamin E, thiamine, coenzyme Q10; biotin in biotinidase deficiency; folinic acid in cerebral folate transport disorder).
- Ataxia telangiectasia: Cautious use of radiomimetic chemotherapies and radiation therapy for associated malignancies.
- Physical and occupational therapy, speech and swallowing therapy, and other rehabilitation interventions can greatly improve quality of life in children with ataxia of any cause.
» READ BOOK EXCERPT ONLINE »
Source: The 5-Minute Pediatric Consult, 2008
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