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Diagnostic Tests for Ataxia Telangiectasia
Diagnostic Test list for Ataxia Telangiectasia:
The list of diagnostic tests mentioned in various sources as used in the diagnosis of Ataxia Telangiectasia includes:
Diagnostic Tests for Ataxia Telangiectasia: Online Medical Books
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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.
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.
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.
Spider angioma [Arterial spider, spider nevus, spider telangiectasia, stellate angioma, vascular spider]:
History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))
Begin your examination by asking the patient how long he has had the spider angiomas and where they’re located. Then carefully examine him yourself, noting the size and location of the angiomas. On palpation, the angiomas may be slightly warmer than the surrounding skin and may have a pulsating central body. Also, check for other skin abnormalities, such as jaundice, dryness, and palmar erythema.
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.
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:
Telangiectasias/Angiomas:
Diagnostic Approach
(Field Guide to Bedside Diagnosis)
Linear telangiectasias are simple red or blue lines that blanch with pressure and disappear with diascopy. They are common with actinic damage, rosacea, carcinoid, ataxia-telangiectasia, or cutaneous inflammation (such as discoid lupus).
Spider angiomata have a central pulsating punctum (seen with diascopy), radial legs, and a halo of pallor caused by a vascular steal phenomenon.
Periungual nailfold telangiectasias, resembling glomeruli on 10-fold magnification, are found in lupus, scleroderma, and dermatomyositis.
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.
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
Labyrinthine Ataxia
Sensory Ataxia
Frontal Lobe Ataxia
Evaluation
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.
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- Diagnosis of Ataxia Telangiectasia
- Signs of Ataxia Telangiectasia
- Complications of Ataxia Telangiectasia
- Associated Conditions of Ataxia Telangiectasia
- Inheritance and Genetics of Ataxia Telangiectasia
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