Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
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The mute or nearly mute patient who is alert and has good understanding of speech and a right hemiparesis could have Broca's aphasia, akinesia of speech (transcortical motor aphasia), or aphemia. The patient who has Broca's aphasia does not write well, and his speech does not improve greatly with repetition. The speech of a patient with akinesia of speech improves with repetition. The aphemic patient writes normally, but his speech does not improve with repetition. The mute patient whose eyes are open but who is poorly responsive and moves little or not at all could be an akinetic mute (with either a cingulate or a thalamomesencephalic lesion) or have a locked-in syndrome. The latter is diagnosed by asking the patient to look up and down or to open and close his eyes. If he obeys these commands, the physician questions him using a code of eye movement responses. If the patient fails to respond at all, he is an akinetic mute; intense stimulation may result in speech or movement. If the patient is drowsy and has third nerve involvement, the lesion is in the thalamomesencephalic reticular formation. If the patient appears alert and has episodes of agitation, he probably has bilateral lesions in the gyri cinguli. Patients with weakness of the bulbar musculature (facial, palatal, and tongue weakness and dysphonia) may have either upper motor neuron or lower motor neuron lesions. Only bilateral upper motor neuron lesions produce permanent dysarthria. As a typical example, a patient has a transient left hemiparesis with dysarthria and almost completely recovers. Later, however, a right hemiparesis develops and the patient experiences severe bilateral facial weakness, drooling, dysphagia, and severe dysarthria. The absence of atrophy of the bulbar musculature, a hyperactive jaw jerk and gag reflex and, sometimes, inappropriate laughing or crying episodes indicate that the lesion is located above the medulla in the corticobulbar tracts. Flaccid paralysis, absence of the jaw jerk or gag reflex, and absence of other upper motor neuron signs, such as upgoing toes, indicate a lower motor neuron or neuromuscular junction problem. Appropriate tests to rule out myasthenia gravis should be done. The other conditions discussed here are often obvious from their clinical presentation. Although the specific disorder of speech sometimes is helpful in localizing the cause, in most patients, the associated deficits on neurologic examination are of greatest value.
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PMID:Nonlanguage disorders of speech reflect complex neurologic apparatus. 16 83

A 22-day-old infant developed infant botulism characterized by profound weakness, hypotonia, respiratory arrest, areflexia, ptosis, pupils that responded poorly to light, and absent gag reflex. Stool examination yielded Clostridium botulinum type B organisms and type B toxin. Electromyography provided rapid diagnostic assistance. With supportive care, reovery was complete. This "new" disease probably is more common than now appreciated.
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PMID:Botulism in infancy. Report of a case. 88 98

A rare case of intramedullary schwannoma of the spinal cord has been reported, The patient was a 30-year-old woman, who began to notice weakness in her right leg approximately 6 months prior to admission, followed 4 months later by numbness and weakness of the right arm. The above symptoms were progressively getting worse, and she was admitted to Hokkaido University Hospital on February 23, 1974. Neurological examination revealed slow speech, bilateral horizontal nystagmus, absent gag reflex and weakness of right trapezius muscle. Spasticity was noted in 4 extremities, in addition to right hemiparesis. All deep tendon reflexes were hyperactive, right more than left, with bilateral Hoffmann's and Babinski's signs. Vibration sense was diminished below the level of bilateral iliac crests. A tumor around the foramen magnum was suspected, however plain skull and neck, laminogram of cervical spines, vertebral arteriogram, fractional pneumoencephalogram and myodil myelogram failed to disclose abnormalities. Manometric Queckenstedt test showed a partial block on flexion, with CSF protein of 56 mg/dl. Air myelogram clearly visualized the presence of an intramedullary tumor at the level of the medullo-spinal junction. Subtotal removal of the intramedullary tumor at C1 was performed, which proved to be a schwannoma histologically. 14 such cases are reported in the literature and summarized on Table I, including our case. Clinical features of tumors around the foramen magnum are fairly complexed, and some radiological examinations might not be conclusive. It is stressed that air myelogram is extremely valuable in the diagnosis of lesions around the foramen magnum.
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PMID:[A case of intramedullary spinal schwanoma (author's transl)]. 98 97

Feline immunodeficiency virus (FIV) has morphological, physical and biochemical characteristics similar to human immunodeficiency virus (HIV), the cause of AIDS in man. However, it is antigenically and genetically distinct from HIV; an antigenic relatedness with equine infectious anaemia virus has been demonstrated. FIV has been molecularly cloned and sequenced. Diagnostic tests are commercially available and attempts at preparing inactivated, subunit and molecularly engineered vaccines are being made in different laboratories. During FIV infection a transient primary illness can be recognized, with fever, neutropenia and lymphadenopathy. After a long period of clinical normalcy a secondary stage is distinguished with signs of an immunodeficiency-like syndrome. The incubation period for this stage can be as long as 5 years, during which gradual impairment of immune function develops. Many FIV-infected cats are presented for the first time showing vague signs of illness: recurrent fevers, emaciation, lack of appetite, lymphadenopathy, anaemia, leucopenia and behavioural changes. Later, the predominant clinical signs observed are chronic stomatitis/gingivitis, enteritis, upper respiratory tract infections, and infections of the skin. Neoplasias, neurological, immunological and haematological disorder are seen in a smaller proportion. The immunodeficiency-like syndrome is progressive over a period of months to years. Concomitant infection with feline leukaemia virus has been shown to accelerate the progression of disease. In vitro, phenotypic mixing between FIV and an endogenous feline oncovirus (RD114) has been demonstrated which leads to a broadening of the cell spectrum of the lentivirus. Bovine immunodeficiency virus (BIV) has been isolated only once, and all attempts to obtain additional isolates have failed; it has been recovered from the leucocytes of cattle with persistent lymphocytosis, lymphadenopathy, lesions in the central nervous system, progressive weakness and emaciation. As with the feline representative, BIV also was found to possess a lentivirus morphology and to encode a reverse transcriptase with Mg++ preference; it replicates and induces syncytia in a variety of embryonic bovine tissues in vitro. Antigenic analyses have demonstrated a conservation of epitopes between the major core protein of BIV and HIV. The original isolate has been molecularly cloned and sequenced. Besides the three large open reading frames (ORFs) comprising the gag, pol, and env genes common to all replication-competent retroviruses, five additional small ORFs were found. Numerous point mutations and deletions were found, mostly in the env-encoding ORF. These data suggest that, within a single virus isolate, BIV displays extensive genomic variation.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Animal immunodeficiency viruses. 133 43

A 52-year-old human immunodeficiency virus type 1-seropositive bisexual black man was evaluated at UCLA because of the recent onset of progressive lower-extremity weakness. Initial neurologic examination showed that the patient's distal weakness was greater than his proximal weakness, with bilateral foot drop and electrophysiologic evidence of denervation in the distal lower extremities. Magnetic resonance imaging of the brain and spinal cord disclosed no abnormalities. Subsequent neurologic evaluation 8 months later showed a myelopathy, with progression of lower-extremity weakness, spasticity, and flexor spasms, and urinary incontinence, as well as the peripheral neuropathy noted previously. A second magnetic resonance imaging scan of the brain showed patchy foci of increased signal intensity in white matter and cortex, with mild generalized cerebral and cerebellar atrophy and no lesions in the spinal cord. Specimens of the patient's serum and cerebrospinal fluid contained antibodies to human immunodeficiency virus type 1. Additionally, specimens of his serum and cerebrospinal fluid were tested for antibody to human T-cell leukemia virus type I by Western blotting and radioimmunoprecipitation, and found to be positive for human T-cell leukemia virus type I gag, env, and tax antibodies. The primary cause of severe myelopathy in this patient may be infection with human T-cell leukemia virus type I rather than with human immunodeficiency virus type 1. Treatment with prednisolone resulted in improvement of the lower-extremity weakness, reduction in flexor spasms, and slower but significant improvement in urinary symptoms. Patients who are infected with human immunodeficiency virus type 1 and have unusual motor findings should be tested for concomitant human T-cell leukemia virus type I infection.
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PMID:A patient with progressive myelopathy and antibodies to human T-cell leukemia virus type I and human immunodeficiency virus type 1 in serum and cerebrospinal fluid. 232 40

A 56 year-old man presented with vertigo and the right sided weakness. Neurological examination revealed a lethargic man with good orientation to three spheres. His neck was supple. He had anisocoria, the right pupil being larger than the left by 1.5 mm with sluggish light reaction bilaterally. He had exotropia of the right eye in primary gaze. The abduction of both eyes were full with terminal horizontal nystagmus. The adduction of both eyes were quite limited in each eye. He had a limited upward gaze with poor convergence. These were interpreted as the syndrome of the medial longitudinal fasciculus (MLF) bilaterally. He had a depressed gag reflex on the right side with tongue deviation to the right. He had a mild weakness of the right side limb and also had the right sided hemihyperesthesia including his face to pain and temperature. Twenty four hours after the onset, the left brachial angiography revealed a complete occlusion of the rostral portion of the basilar artery without visualization of the posterior cerebral and superior cerebellar arteries bilaterally. CT scans three days after the onset revealed a low density area in the mid pons with extension rostrally up to the mesencephalon. Four days later he became quadriplegic with bilateral horizontal gaze palsy. No more internuclear ophthalmoplegia is noted on both sides. The midline location of the MLF in the pons, and the separate blood supplies by different paramedian branches of the basilar artery, form the anatomical explanation for the frequent unilaterality of vascular and bilaterality of demyelinating lesions. Bilateral MLF syndrome has been considered almost pathognomonic of multiple sclerosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Bilateral internuclear ophthalmoplegia in association with basilar artery occlusive disease]. 235 Sep 28

A fifth case of oculomasticatory myorhythmia associated with cerebral Whipple's disease is reported. This peculiar abnormal movement has never been described in association with cerebral dysfunction other than Whipple's disease. The present case exhibited rhythmic convergence of the eyes and synchronous (1-2 Hz) contractions of the masticatory muscles and of the proximal and distal skeletal muscles. These abnormal movements occurred 13 years after the beginning of the disease. They were persistent and unchanged until the death of the patient 3 months later. No treatment was effective to suppress the involuntary movements (clonazepam, baclofen, antibiotics). Associated neurological signs included global supranuclear ophthalmoplegia, facial weakness, bilateral ptosis, absent gag reflex, and intellectual deterioration.
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PMID:Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple's disease. 246 61

A case of multiple sclerosis (MS) in a 39 year old Japanese female with high antibody titer to human T-lymphotropic virus type I (HTLV-I) in serum and cerebrospinal fluid (CSF) was reported. At the age of 15, gait and urinary disturbances accompanied by sensory impairment in the lower abdomen and lower extremities developed suddenly. The motor disturbance slowly progressed to tetraparesis over a period of 15 years with several remissions. At the age of 28 the patient suffered from an acute loss of visual acuity, unilateral initially, and became blind by the age of 34. On admission to our department in September, 1987, the patient was alert and had spastic paraparesis, the impairment of all sensory modalities below the level of Th 10 and urinary disturbance. Weakness of facial muscles, nystagmus, deviation of the tongue and dysarthria were also noted. By the PA method, the antibody titer to HTLV-I was measured x512 in the serum and x64 in the CSF. Western blotting analysis of the CSF disclosed the bands to p19, p24 and p28 of HTLV-I gag proteins. The CSF contained a few ATL-like atypical cells and showed mild lymphocytosis, but the total protein was not increased. The computed tomography revealed diffuse low density areas in the cerebral white matter. The magnetic resonance imaging disclosed high intensity signal areas in the cerebral white matter and in the dorsolateral portion of the medulla oblongata on the T2 weighted image. The link of HTLV-I infection to the pathogenesis of human demyelinating diseases was discussed.
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PMID:[A case of multiple sclerosis with high CSF antibody titer to HTLV-I]. 275 51

A 55-year-old man was admitted because of weakness in the legs of a few days duration. Neurological examination revealed paraparesis, ataxia of the left limbs, superficial hypoesthesia below the T-10 dermatome level and urinary retention. The antibody titers to human T-lymphotropic virus type I (HTLV-I) were x640 in the serum and x16 in the cerebrospinal fluid (CSF). The HTLV-I gag proteins, p19, p24, p46 and p53 were identified by Western blotting analysis of the serum and CSF. The CSF contained 691 white cells/c.mm; protein, 260 mg/dl; IgG, 84 mg/dl; and IgG index, 2.49. Although the paraparesis and urinary retention disappeared within 10 days, he developed right uveitis which responded well to corticosteroid treatment. With improvement of the sensory impairment, cerebellar signs and CSF pleocytosis as well as uveitis, he was discharged eight weeks after admission. HTLV-I uveitis is a recently established disease entity. The case emphasizes the need to test blood and CSF for HTLV-I antibodies if patients developed myelopathy and cerebellar signs of acute onset, especially when associated with uveitis.
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PMID:Acute myelopathy and cerebellar signs associated with uveitis with positive serum and cerebrospinal fluid antibodies to HTLV-I. 770 52

In early phases of neuromuscular disease, patients are either free of respiratory symptoms or have exertional dyspnea not explained by obvious obstructive or restrictive lung disease. Physical examination may be negative because generalized muscle weakness does not correlate with the degree of respiratory muscle involvement. When the diaphragm is involved, one may detect the absence of outward excursion during inspiration or even paradoxic inward inspiratory movement of the abdomen on one side. A substantial loss of respiratory muscle strength is typically accompanied by little or no change in spirometry or arterial blood gas composition. Other characteristics are moderate loss of maximal voluntary ventilation and an increase in residual volume, yet PImax and PEmax may be as low as 50% of the predicted value. In more advanced neuromuscular disease, patients may have severe symptoms if the onset is acute or subacute; however, patients with chronic advanced generalized muscle weakness do not exercise and, therefore, may not be breathless. Many patients with advanced neuromuscular disease present with daytime somnolence as a manifestation of a sleep-related breathing disorder. Physical examination may reveal generalized muscle weakness and difficulty with speech or swallowing. Signs specific to respiratory involvement include tachypnea, use of neck inspiratory muscles and abdominal expiratory muscles, and loss of chest-abdomen synchrony. Sometimes paradoxic bilateral inward movement of the abdomen with inspiration is overt. Patients may be unable to cough effectively, have scoliosis, and lack a gag reflex. At this advanced stage, PImax and PEmax are lower than 50% of the predicted value, and the vital capacity is reduced. Maximal voluntary ventilation increases, and residual volume increases further. Patients may not yet exhibit CO2 retention during the day and may even have a low PaCO3. A sleep study may reveal significant hypopneas with severe desaturation and hypercapnia, especially during REM sleep. It is important to be aware that overt ventilatory failure can occur abruptly and that measurement of arterial blood gas composition is not a reliable indicator of this danger. Therefore, it is critically important to heed clinical phenomena, such as increasing dyspnea and tachypnea, and symptoms of sleep disturbance, such as morning headache and daytime somnolence. Physicians should make serial measurements of VC and respiratory muscle strength in patients considered to be at risk for further deterioration.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Assessment of ventilatory function in patients with neuromuscular disease. 786 89


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