Diagnostic Tests for Refsum Disease
Refsum Disease Tests: Book Excerpts
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Refsum Disease Diagnosis: Book Excerpts
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ATAXIA:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
The wise clinician should consider a neurologic referral at the outset. If there is vertigo, tinnitus, or deafness, then an audiogram and caloric testing should be done. If these suggest eighth nerve damage, then a CT scan or MRI of the brain should be done. Headaches, sustained nystagmus, or papilledema are other indications for a CT scan or MRI. If multiple sclerosis is suspected, MRI of the brain is very useful, as well as spinal fluid for gamma globulin and myelin basic protein. Perhaps VEP, brain stem evoked potential (BSEP), or SSEP studies should be done. If vascular disease is suspected, magnetic resonance angiography will allow assessment of the vertebral-basilar arteries. If this is not available, four-vessel cerebral angiography may be utilized. Patients with hypoactive reflexes and glove and stocking hypoesthesia and hypalgesia will need a neuropathy workup . When there is ataxia in the presence of a normal neurologic examination, referral to a psychologist for psychometric testing should be done.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
SENSORY LOSS:
DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)
Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, ANA, serum protein electrophoresis, VDRL test, chest x-ray, and x-ray of the spine. Findings of a clear-cut sensory loss are a good reason to consult a neurologist at this point. When one is not available, further workup depends on what part of the body is affected.
If only the lower extremities are involved, a CT scan or MRI of the lumbar or thoracic spine may be done. EMG and nerve conduction velocity studies of the lower extremities will complement the diagnostic evaluation.
If the upper and lower extremities both are involved, an MRI of the cervical spine would be the best procedure to perform. A CT scan of the cervical spine is not nearly as precise. EMG examination of the upper and possibly the lower extremities should be done in these cases. Nerve conduction velocity studies may need to be done also.
If the face is involved along with the extremities, a CT scan or MRI of the brain should be done. Skull x-rays are not very useful unless a fracture of the skull is suspected.
Carotid scans and four-vessel angiography are very useful in evaluating cerebral vascular disease. If peripheral neuropathy is suspected, a neuropathy workup
should be done. If multiple sclerosis is suspected, a spinal tap and SSEP or VEP studies will assist in the diagnosis. A spinal tap will also be useful in diagnosing central nervous system lues. If pernicious anemia is suspected, a serum B
12
and folic acid and possibly a Schilling test should be done. Guillain-Barré syndrome is diagnosed by a spinal fluid examination, which will show a markedly elevated spinal fluid protein in the face of a normal cell count.
Entrapment syndromes, such as carpal tunnel syndrome, ulnar nerve entrapment, or tarsal tunnel syndrome, are diagnosed by nerve conduction velocity studies.
A wake-and-sleep EEG may diagnose complex partial seizures or parietal lobe seizures. Sometimes, combined myelography and CT scan are better than MRI studies in selected cases.
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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003
Ataxia:
History and physical examination
(Handbook of Signs & Symptoms (Third Edition))
If the patient isn’t in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Also, ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the patient’s ataxia developed suddenly or gradually.
If necessary, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open, and then closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.
If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength as well. Gait ataxia may be severe, even when limb ataxia is minimal. With gait ataxia, ask the patient if he tends to fall to one side, or if falling occurs more frequently at night. With truncal ataxia, remember that the patient’s inability to walk or stand, combined with the absence of other signs while he’s lying down, may give the impression of hysteria or drug or alcohol intoxication.
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Source: Handbook of Signs & Symptoms (Third Edition), 2006
Ataxia:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
If the patient isn’t in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Also ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the ataxia developed suddenly or gradually.
If necessary, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open and then with them closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.
If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength, too. Gait ataxia may be severe, even when limb ataxia is minimal. Ask the patient with gait ataxia if he tends to fall to one side and if he falls more at night. With truncal ataxia, remember that the patient’s inability to walk or stand, combined with the absence of other signs while he’s lying down, may give the impression of hysteria or drug or alcohol intoxication.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Ataxia:
Physical examination
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
A. Neurologic examination. Evaluate for dysmetria (finger-nose difficulty), saccadic eye movements (differentiated from nystagmus by multidirectionality), titubation (head bobbing), truncal swaying, and dysdiadochokinesia (difficulty with rapid alternating movements). Observe speech patterns (wandering pitch, volume). The typical ataxic gait is wide based. Cerebellar ataxia can be differentiated from sensory ataxia or poor proprioception by Romberg’s sign, where the removal of visual input dramatically reduces compensatory ability in sensory ataxia. Unilateral symptoms suggest a focal cerebellar insult (stroke, arteriovenous malformation, tumor), and deviation occurs ipsilateral to the lesion.
B. Associated symptoms can reveal specific processes. An older child with intermittent ataxia from basilar migraine, for example, will have a normal neurologic examination, whereas a child with hereditary periodic ataxia can present with nystagmus and more mild symptoms (1). Ataxia can precede the characteristic lesions of ataxia-telangiectasia, which tend to appear around 5 years of age. Opsomyoclonus warrants a search for neuroblastoma. The photosensitive rash of Hartnup’s disease and the specific findings of maple syrup urine disease can assist in diagnosis. Look for signs and symptoms of hypothyroidism (Chapter 14.4). Pes cavus and scoliosis are associated with Friedreich’s ataxia.
Testing
A. Diagnostic imaging. Most evaluations should begin with imaging of the brain, because clinical pictures suggest specific diagnoses only on occasion. Magnetic resonance imaging is superior to demonstrate tumors, multiple sclerosis, and malformations. Imaging differentiates between posttraumatic posterior fossa hemorrhage and postconcussion syndrome. Lumbar puncture may be necessary to rule out an infectious cause. An electroencephalogram helps uncover intermittent, seizure-related ataxia (“pseudoataxia”).
B. Clinical laboratory tests. As indicated, check amino acid screening, toxin screening, and thyroid function. Younger individuals may benefit from testing for IgA, ceruloplasmin, and phytanic acid deficiency to rule out ataxia-telangiectasia, Wilson’s disease, and Refsum’s disease, respectively. Pyruvate is a marker of mitochondrial disease. Vanillymandelic acid and homovanillic acid levels occasionally help to detect occult neuroblastomas. Paraneoplastic cerebellar degeneration is an immunologic phenomenon, most often associated with small cell lung cancer, for which Hu and Yo antibodies may be diagnostic. Approximately 40% of patients with Friedreich’s ataxia have frank or occult glucose intolerance, and there are associated electrocardiogram abnormalities.
Diagnostic assessment.
The list of conditions that cause ataxia is long, but most fall under the categories of neoplastic, infectious or immunologic, hereditary (metabolic or primary cerebellar), structural, degenerative (idiopathic or secondary), toxic, traumatic, or vascular disease. The time course can suggest more or less likely diagnoses. Although degenerative and hereditary diseases occur across the lifespan, certain diseases occur more frequently at certain ages.
References
1. Fenichel GM. Clinical pediatric neurology: a signs and symptoms approach, 3rd ed. Philadelphia: WB Saunders, 1997.
2. Lieber CS. Medical disorders of alcoholism. N Engl J Med 1995;333:1058–1065.
3. Marsden CD, Fowler TJ. Clinical neurology, 2nd ed. London: Arnold Med Publishers, Ltd., 1998.
4. Sudarsky L. Gait disturbances of the elderly. N Engl J Med 1990;322:1441–1446.
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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
Ataxia:
Diagnostic Approach
(Field Guide to Bedside Diagnosis)
Hemiparetic gait, a stroke residua, results from abduction/circumduction of the leg with a contralateral tilt of the body. Paraparetic gait, found with spinal cord disease or cerebral palsy, is marked by “scissoring,” or crossing with each step. A steppage gait, seen with peroneal neuropathy, has a foot drop with a high step to avoid toe dragging, and the foot slaps down. With a waddling gait, in proximal leg weakness such as myopathy, the leg is lifted high, and the trunk leans opposite. A Parkinsonian gait has a forward stoop with flexion of the hips, knees, and elbows and short shuffling steps, which accelerate. An apraxic gait, with bilateral frontal lobe disease, is shuffling, but the gait is hesitant and not maintained. A cerebellar/ataxic gait is broad-based and irregular. A sensory/ataxic gait is broadly based with a positive Romberg. With a vestibular gait, the patient falls to one side whether walking or standing. With hysterical gait, there is normal leg coordination while sitting but dramatic falls when standing.
A positive Romberg (unsteady with eyes closed, steady with eyes open) indicates posterior column disease. Gross lesions of the spinal cord rarely present with ataxia because of prominent weakness and spasticity. Cerebellar lesions produce dysmetria and decomposition of movement. Speech may be scanning, with each syllable pronounced separately.
With sensory ataxia, loss of touch causes little ataxia, but loss of proprioception causes severe ataxia, which increases with the eyes closed. The gait is wide-based with the feet landing with force. Both Romberg and pursuit (finger to nose or heel to shin) will be abnormal. It is caused by a lesion of the peripheral nerves, posterior columns (vitamin B12 deficiency subacute combined degeneration), posterior roots (tabes), medial lemniscus, thalamus, or sensory cortex. Polyneuritis may be caused by diabetes, polyarteritis nodosa, alcohol, arsenic, Guillain-Barré, or porphyria.
Points of differentiation are as follows:
» READ BOOK EXCERPT ONLINE »
Source: Field Guide to Bedside Diagnosis, 2007
Peripheral Neuropathy:
Diagnostic Approach
(Field Guide to Bedside Diagnosis)
Sensory neuropathy symptoms include positive phenomena such as tingling; pins/needles; and burning, cold, or lancinating pain. Physical findings include weakness, fasciculations, atrophy, ataxia, wide-based gait, abnormal sweating, decreased or absent deep tendon reflexes, orthostatic hypotension, hypesthesia surrounded by a zone of hyperesthesia, and vibration or position sense affected before pinprick or temperature sense.
Autonomic neuropathy symptoms include impotence, retrograde ejaculation, diaphoresis, incontinence, urinary retention, constipation, diarrhea, orthostatic dizziness, and flushing. Physical findings include delayed pupillary light response, resting tachycardia, sinus arrhythmia, and orthostatic hypotension.
Sensory loss confined to part of a limb suggests injury to a peripheral nerve, plexus, or spinal root, resulting from trauma, entrapment, or vascular insufficiency. Mononeuropathy multiplex affects multiple nerves over time (e.g., due to diabetes or vasculitis). Polyneuropathy occurs in a stocking-glove distribution starting with the longest nerves, and is due to axonal neuropathy, with a toxic or metabolic origin. Bilaterally symmetrical symptoms are found in polyneuropathy or spinal cord lesions, while unilateral involvement is seen in contralateral disease of the brainstem, thalamus, or cortex.
Injury to large myelinated nerves produces decreased light touch and proprioception with a sensation of “walking on a thick carpet” or imbalance. Injury to medium fibers causes decreased light touch and vibration sense. Injury to small unmyelinated fibers, as occurs in diabetes or amyloidosis, decreases pain and temperature sensation and produces dysesthesias. Disproportionate loss of vibration sense and proprioception compared with pain and temperature sensation occurs with diseases of the dorsal column of the spinal cord (e.g., neurosyphilis, vitamin B 12 deficiency, or multiple sclerosis) and demyelinating polyneuropathy.
Transverse cord lesions produce loss of all modalities below the level of the lesion and a band of hyperalgesia at the level of the lesion. Lateral cord compression is heralded by early sensory changes. Dorsal cord compression affects proprioception and tactile discrimination without pain or temperature loss. Pernicious anemia and tabes dorsalis preferentially affect the dorsal columns.
» READ BOOK EXCERPT ONLINE »
Source: Field Guide to Bedside Diagnosis, 2007
Ataxia:
Physical assessment
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
If necessary, perform Romberg’s test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his sides. Note his posture and balance, first with his eyes open, then closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.
If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements and check motor strength, too. Gait ataxia may be severe, even when limb ataxia is minimal. With gait ataxia, ask the patient if he tends to fall to one side and if falling usually occurs at night. With truncal ataxia, remember that inability to walk or stand, combined with the absence of other signs when lying down, may give the impression of hysteria or drug or alcohol intoxication.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
Ataxia:
Diagnostic Approach
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)
Types of Ataxia
History—including mode of onset(acute, episodic, chronic/progressive)—and physicalexam help distinguish between different types of ataxia (cerebellar,labyrinthine, sensory, and frontal lobe).
Cerebellar Ataxia
Most commoncauses are acute cerebellar ataxia of childhood, drug intoxication,head trauma, and posterior fossa neoplasm.Besides ataxia, other signs of cerebellarinvolvement include nystagmus, intention tremor, and swaying orlurching during tandem walking. Labyrinthine Ataxia
Most commoncause is acute labyrinthitis secondary to viral upper respiratoryinfection or acute otitis media.Nystagmus, vertigo, and hearing lossare common associated findings. Sensory Ataxia
Causes includemultiple sclerosis and spinocerebellar degeneration disorders.Signs of peripheral sensory loss (touch,pain, temperature, vibration, and position sensation), paresthesias,absent deep tendon reflexes, and limb weakness may be found withsensory ataxia. Frontal Lobe Ataxia
Most commoncauses of frontal lobe ataxia are acute head trauma and frontallobe tumors.Seizures, impaired higher corticalfunction (speech, behavior, cognition), and increased intracranialpressure in association with ataxia may signify frontal lobe lesion. Evaluation
Type ofataxia, mode of presentation, and inheritance pattern help narrowdiagnostic possibilities.History may indicate drug ingestion.CT or MRI can diagnose congenital malformation,hydrocephalus, cerebral tumor, brain abscess, and cerebellar hemorrhage.Lumbar puncture should be performedwith suspected meningitis, encephalitis, or multiple sclerosis afterneuroimaging has excluded mass lesion.Electromyography and measurement ofnerve conduction velocity are useful with suspected sensory ataxia.Vestibular function tests may be usefulwith suspected labyrinthine ataxia.With ataxia and suspected metabolicdisorder, the following tests should be performed initially: serumelectrolytes, glucose, ammonia, lactate, and pyruvate; and quantitativeblood and urine amino acids. Other investigations depend on suspecteddiagnosis.
» READ BOOK EXCERPT ONLINE »
Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006
Ataxia:
History and physical examination
(Nursing: Interpreting Signs and Symptoms)
If the patient isn't in distress, review his history. Ask about multiple sclerosis, diabetes, central nervous system infection, neoplastic disease, previous stroke, and a family history of ataxia. Ask about chronic alcohol abuse or prolonged exposure to industrial toxins such as mercury. Find out if the patient's ataxia developed suddenly or gradually.
If necessary, perform Romberg's test to help distinguish between cerebellar and sensory ataxia. Instruct the patient to stand with his feet together and his arms at his side. Note his posture and balance, first with his eyes open, and then closed. Test results may indicate normal posture and balance (minimal swaying), cerebellar ataxia (swaying and inability to maintain balance with eyes open or closed), or sensory ataxia (increased swaying and inability to maintain balance with eyes closed). Stand close to the patient during this test to prevent his falling.
If you test for gait and limb ataxia, be aware that motor weakness may mimic ataxic movements, so check motor strength as well. Gait ataxia may be severe, even when limb ataxia is minimal. With gait ataxia, ask the patient if he tends to fall to one side, or if falling occurs more frequently at night. With truncal ataxia, remember that the patient's inability to walk or stand, combined with the absence of other signs while he's lying down, may give the impression of hysteria or drug or alcohol intoxication.
» READ BOOK EXCERPT ONLINE »
Source: Nursing: Interpreting Signs and Symptoms, 2007
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