Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 16 96

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 17 65

A 19 year old male with phenylketonuria (PKU) developed a spastic paparesis 8 months after stopping his restricted phenylalanine diet. CT and MRI showed abnormalities of the deep cerebral white matter, and visual evoked response latencies were prolonged. The spasticity gradually improved over several months after resuming the PKU diet. A repeat MRI scan was unchanged. His brother also had PKU and ceased dietary restrictions, but his only neurological abnormality was a slight increase in the deep tendon reflexes of the lower limbs. CT and MRI of his brain was normal. DNA analysis showed that both brothers were homozygous for the same PKU mutation. These patients demonstrate that reversible neurological signs may develop in patients with classic PKU after ceasing dietary restrictions and that these may be associated with abnormalities seen on neuro-imaging.
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PMID:Spasticity and white matter abnormalities in adult phenylketonuria. 160 7

A 63-year-old man developed muscular atrophy and weakness in his four extremities since 1983, and was pointed out to have smoldering ATL by elevated HTLV-1 antibody titers in the serum (x 2,500) and CSF (x 32) in 1985. Neurological examinations revealed proximal muscular weakness and atrophy of four extremities, and mild spasticity of both legs. Deep tendon reflexes were hypoactive in both arms and hyperactive in both lower extremities with ankle clonus and bilateral positive Babinski and Chaddock reflexes. These findings were compatible with HAM. His gait, however, was markedly waddling, requiring support. Muscle biopsy at left biceps muscle revealed inflammatory change with rimmed vacuoles, small group atrophy, and marked type 1 fiber predominance. These findings on muscle biopsy are different from those of previously reported cases with HAM, showing some similarities to inclusion body myositis or distal myopathy with rimmed vacuole.
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PMID:[A case of HTLV-1 associated myelopathy and adult T-cell leukemia, presenting unique muscle pathology including rimmed vacuole]. 180 70

Abnormality in the beta-hexosaminidase alpha gene underlying the clinical phenotype of a Lebanese patient with a juvenile form of Tay-Sachs disease has been studied. Clinical features were progressive spasticity, ataxia, and cognitive decline. The protein coding sequence of several beta-hexosaminidase alpha-chain complementary DNAs isolated by polymerase chain reaction was completely normal except for a G-to-A transition at nucleotide position 1511 within exon 13, which resulted in substitution of the normal arginine 504 (CGC) with histidine (CAC). Although the patient was from a first-cousin marriage, she was heterozygous for this mutation. The abnormality in the other allele, which is carried by the father, was not identified, except that it is neither of the two mutations responsible for the infantile Jewish Tay-Sachs disease. Biosynthetic and immunoprecipitation studies in cultured fibroblasts showed synthesis of the alpha-chain precursor, but the mature form of the alpha-subunit was not detected.
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PMID:Genetic cause of a juvenile form of Tay-Sachs disease in a Lebanese child. 199 72

We evaluated magnetic resonance image (MRI) in 21 cases of hereditary spinocerebellar degenerations (SCD) of autosomal dominant trait. By the discriminant formula based on size of the cerebellar vermis and ventral pons, which was reported in our previous study, the patients were classified into three types. Group 1 included the cases with atrophies in the vermis and pons; OPCA type. Group 2 showed vermian atrophy and less significant atrophy in pons; LCCA type. And Group 3 was no significant atrophies both in vermis and pons. Cases in Group 1 were furthermore divided into two groups according to width of the midbrain tegmentum. Group 1A, with normal midbrain tegmentum, was consisted of five cases. Four cases were diagnosed as Menzel type OPCA. Another case showed various clinical symptoms and relatively mild atrophies for his duration of illness. His family members were classified to Group 3. Seven cases in Group 1B showed reduced midbrain tegmentum. Four cases showed ataxia, spasticity, ocular symptoms, bladder dysfunction and amyotrophy with or without fasciculation, and they seemed to be a special type of SCD mimicking Joseph disease. One case showed bulging eyes, ocular movement palsy and dystonia. However, his sister manifested only ataxia with very mild ocular movement disorder. Their MRI demonstrated severe atrophies in the cerebellum, pons and afferent cerebellar peduncli, and this pedigree was thought to be Menzel type OPCA with various associated disorders. Another case was clinically diagnosed as dentate-rubro-pallido-luysian atrophy. Group 2 was consisted of 6 cases who were clinically diagnosed as Holmes type LCCA. MRI demonstrated medial dominant cerebellar atrophy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An MRI study of hereditary spinocerebellar degenerations]. 222 53

A 22-year-old male developed a tic of neck-flexion at the age of 14. The tic occurred 40 to 50 times per minute on its peak at age 16. Since then he noticed the atrophy and weakness of his both upper limbs. His right leg became weak at age 22. On admission, neurological examination revealed tic of lip and neck, severe muscle atrophy and weakness of bilateral upper limbs, mild muscle weakness and spasticity of right lower limb and hyperreflexia in four limbs. Needle EMG studies revealed fibrillation, positive sharp wave and giant MUP in the biceps, triceps and first interossei muscles. There were no abnormal findings suggesting cervical spondylosis or disc herniation on neck roentgenogram and neck MRI in neutral position. Neck MRI in the ventro-flexed position showed a flattening of the lower cervical cord and a band-like isointensity lesion in the posterior epidural space at C4-6. This isointensity lesion was considered to represent a congestion of the internal vertebral venous plexus. These findings suggest that frequent neck flexion by itself causes the injury of the lower cervical cord through (1) over-stretching of the cord, (2) compression of the cord by dural sac, (3) arterior ischemia, and/or (4) stagnant hypoxia due to venous congestion. Flexion myelopathy may represent one of the most important mechanisms of cervical cord injury accompanied with involuntary movement of neck.
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PMID:[Flexion myelopathy due to tic of neck]. 275 44

We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. From our findings, we propose that the human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band.
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PMID:Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. 300 18

A Case of ossified yellow ligaments in thoraco-lumbar region is reported. A 47-year-old-male complained low back pain with suddenness in August, 1984. One month later, he noticed dyesthesia on his right lower extremity and gait disturbance. These symptoms progressed slowly. In June, 1985, he admitted to The Jikei University Hospital. On neurological examinations, he was noticed an intermittent claudication, spastic paraparesis and stocking type sensory loss in his lower extremities. Plain lumbar X-ray films showed ossified yellow ligaments (OYL) in the posterior half of the spinal canal from the level of 10th thoracic to second lumbar vertebrae. Magnetic resonance imaging disclosed marked indentations of the spinal cord at the same level. The wide laminectomy was carried out and OYL were removed totally in gentle manner. Postoperative course was uneventful. His sensory disorders improved remarkably and he gained good muscle strength in his lower extremities, but a considerable spasticity remained still. OYL is closely related to the developmental canal stenosis, the spondylosis and the other degenerative disorders such as ossification of posterior longitudinal ligaments. This allows more complicated neurological signs and symptoms in the case of OYL. When OYL is suggested, it is recommended to performed whole spinal radiological survey. The surgical consideration should be done. From this point of view, MRI would be a most useful weapon.
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PMID:[A case of ossified yellow ligaments (ossified ligamenta flava) of the thoraco-lumbar region and magnetic resonance imaging]. 309 73

We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was hyperreflexia of the lower limbs. His condition improved clinically with hydroxycobalamin therapy. Patient 2 was hospitalized at 6 weeks of age because of lethargy and poor feeding. She was found to have macrocytosis. Despite an initial good clinical response to hydroxycobalamin, she developed a striking pigmentary retinopathy. Methylmalonic aciduria persisted in both patients, and homocystinuria persisted in patient 1 despite therapy. The diagnosis of Cbl C disease has been confirmed in both patients by biochemical studies of cultured fibroblasts, including complementation studies. The differences in age of onset and clinical findings together with the similar biochemical findings in these two patients demonstrate the heterogeneity of phenotypic expression in patients with apparently identical abnormalities of vitamin B12 metabolism.
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PMID:Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. 395 Aug 20


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