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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.
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PMID:A new variety of hereditary sensory neuropathy. 19 48

From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed.
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PMID:Congenital occipitoatlantoaxial malformations in the horse. 56 4

The 50 patients in this survey were classified by a panel of neurologists into 4 clinical sub-groups: Group Ia ("typical" Friedreich's ataxia, complete picture), Group Ib ("typical" Friedreich's ataxia, incomplete picture), Group IIa ("atypical" Frriedreich's ataxia, possible recessive Roussy-Levy syndrome), Group IIb (heterogeneous ataxias). The clinical symptoms and signs were analyzed for each of these groups. A constellation of signs constantly present in Friedreich's ataxia and obligatory for diagnosis was described. Other important symptoms, such as the Babinski sign, kyphoscoliosis and pes cavus were found to be progressive, but not essential for the diagnosis at any given time. Finally, a host of other symptoms can only be called accessory. The progression of scoliosis was found to be an important tool in the differential diagnosis of ataxias. Our study also indicates, in contrast to the opinion of some authors, that absent deep tendon reflexes in the lower limbs and early dysarthria are essential in "typical" Friedreich's ataxia.
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PMID:Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. 108 79

A woman has appeared normal during her neonatal and childhood period except for a short stature. Her parents were healthy and non-consanguineous. At the age of 8, she noticed difficulty in climbing stairs and had tendency to fall. In her 13th year, she developed marked scoliosis and genu valgum. Physical examination at 14 years of age revealed a gentle and shy child of short stature with brown-black kinky hair. Neurological examinations revealed progressive mental retardation, optic nerve atrophy, moderate and coarse nystagmus on lateral and vertical gaze, atrophic tongue with fasciculations, slow and scanning speech, distal muscular weaknesses with diffuse atrophies in the four extremities and sensory deficiencies in all modalities with a glove-stocking type distribution. At the age of 15, she was unable to walk without a wheelchair. During the course she showed slowly progressive muscular weakness, ataxia and decreasing sensation especially in the lower extremities. She died of infection of the respiratory and urinary tracts at the age of 25. Pathologically the abnormalities in the biopsied and autopsied sural nerve were characterized by an advanced stage of nerve fiber degeneration without giant axons. The phrenic nerve obtained at autopsy at 1 to 10 cm from axon terminal revealed the presence of several large focal axonal swelling of 15-20 microns in diameter. On the other hand, sections of the phrenic nerve at 15 cm from axon terminal displayed a mild to moderate reduction in the number of myelinated fibers without giant axons. The difference of pathological findings among these specimens seems to depend on the time as well as the site of the examination.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Advanced stage of giant axonal neuropathy]. 165 77

Fourteen patients with the clinical diagnosis of early onset cerebellar ataxia with retained tendon reflexes (EOCA) were examined and compared with 11 patients with Friedreich's ataxia (FA). The mean age of onset in EOCA was 15.9 +/- 6.0 yrs (FA: 14.0 +/- 5.7 yrs). Annual progression rate and the percentage of patients who were wheelchair-bound was lower in EOCA as compared with FA, although the difference did not reach statistical significance. The latency until becoming wheelchair-bound, however, was significantly longer in EOCA than in FA. The segregation ratio in EOCA was significantly lower than 0.25. Clinically, EOCA and FA patients presented with a progressive cerebellar syndrome. Associated symptoms, such as muscle wasting, sensory disturbances, foot deformity, scoliosis and electrocardiographic abnormalities were encountered less frequently in EOCA than in FA patients. The electrophysiological findings in EOCA were variable and pointed to axonal degeneration in peripheral nerves and central pathways. Posturographic measurements revealed a higher incidence of anteroposterior sway direction in EOCA as compared with FA, suggesting a cerebellar type of ataxia in EOCA. Eleven out of the 14 EOCA patients had cerebellar atrophy in MRI. The characteristic MRI finding in FA was upper cervical cord shrinkage and only minor atrophy of the cerebellum. The demonstration of cerebellar atrophy in the majority of EOCA patients supports the view that EOCA is distinct from FA. It is uncertain, however, whether EOCA is a homogenous disease entity or a group of phenotypically similar syndromes.
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PMID:Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. 188 66

Three piperidine alkaloid containing plants, Conium maculatum (poison-hemlock), Nicotiana glauca (tree tobacco) and Lupinus formosus (lunara lupine), induced multiple congenital contractures (MCC) and palatoschisis in goat kids when their dams were gavaged with the plant during gestation days 30-60. The skeletal abnormalities included fixed extension or flexure of the carpal, tarsal, and fetlock joints, scoliosis, lordosis, torticollis and rib cage abnormalities. Clinical signs of toxicity included those reported in sheep, cattle and pigs--ataxia, incoordination, muscular weakness, prostration and death. One quinolizidine alkaloid containing plant, Lupinus caudatus (tailcup lupine), on the other hand, which is also known to cause MCC in cows, caused only slight signs of toxicity in pregnant goats and no teratogenic effects in their offspring.
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PMID:Congenital skeletal malformations and cleft palate induced in goats by ingestion of Lupinus, Conium and Nicotiana species. 208 36

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

The Chiari malformation is a condition characterized by herniation of the posterior fossa contents below the level of the foramen magnum, and is categorized into three types based on the degree of herniation. The authors review their surgical experience between 1975 and 1985 with 50 patients afflicted with symptomatic Chiari malformations. Any patient with associated myelomeningocele, tethered spinal cord, lipoma, or diastematomyelia was excluded from this series. Forty-one patients had Chiari I malformations, seven were classified as having Chiari II, and two as having Chiari III. The presentation of pediatric and adult patients was identical. Treatment was directed at the posterior fossa pathology. Seven patients with accompanying ventral bone compression underwent transoral decompression of the cervicomedullary junction, 42 had posterior decompressive procedures, and six received ventriculoperitoneal shunts. The posterior decompression included opening the outlet foramina of the fourth ventricle, occluding any communication between the spinal cord central canal and the obex, shunting the fourth ventricle, and placing a dural graft. Postoperatively, 20% of the patients are asymptomatic, 66% improved, and 8% stabilized; in 6% the disease has progressed in spite of multiple procedures. Preoperative signs that are predictive of a less favorable outcome include muscle atrophy, symptoms lasting longer than 24 months, ataxia, nystagmus, trigeminal hypesthesia, and dorsal column dysfunction (p less than 0.05, chi-square test). A model based on the presence or absence of atrophy, ataxia, and scoliosis at the time of the preoperative examination has been generated that allows prediction of long-term outcome at the 95% confidence level.
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PMID:Symptomatic Chiari malformations. An analysis of presentation, management, and long-term outcome. 274 41

Two girls are described who had normal physical and mental development during the first few months of life, documented on home movies in one. Gross motor development slowed during the second half of the first year followed by loss of acquired vocabulary and deterioration of fine motor skills. Linear growth and head growth decelerated. Stereotyped hand movements appeared around 2 to 3 years of age. Early appropriate social responses faded into a vacant stare. Neurological development was characterized by early hypotonia followed by ataxia and finally spasticity. One girl has been followed through adolescence. Additional symptoms in later childhood and adolescence included scoliosis, episodes of hyperpnea, vasomotor disturbances of the legs, and precocious puberty. The patients fit the criteria for a progressive neurological disorder called Rett's syndrome, which results in profound developmental disability and occurs only in girls. Etiology remains unknown.
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PMID:Rett's syndrome: a progressive developmental disability in girls. 397 29

Two brothers and their sister aged 8, 13, and 7 years were found to have unusual facies (gross, rough and abundant hair, wide forehead, mild palpebral ptosis, small nose, anteverted nostrils, thick lips, and down-slanting corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, feet deformities, and limb and gait ataxia. The characteristic clinical picture in the three sibs, once compared with other ataxic syndromes, allowed one to conclude that this could correspond to a distinct entity probably inherited as an autosomal recessive disorder.
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PMID:A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance. 398 16


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