Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The vast majority of the patients with dystonia have obscure causes. We present 2 cases of neuronal heterotopia in the basal ganglia, who developed contralateral hemi-dystonia and other nervous system abnormalities in early childhood. The first case was a premature female infant who developed involuntary twist movements of the left arm, persistent plantar flexion and eversion of the left foot at age of 7 months. All of the symptoms disappeared during sleep. Delayed motor milestones were also noted. She was still not able to stand or sit steadily at the age of 17 months. The CT scan of brain revealed a nodular lesion at the margin of right lateral ventricle, which was not enhanced by contrast medium suggesting neuronal heterotopia. Besides, smooth cortical surface, poorly recognizable cortical sulci, agenesis of corpus callosum and dilatation of lateral ventricles were also noted. The second case was a 21-year-old man with involuntary movements of left side body and limbs since his early childhood. He had persistent twist and intermittent jerky movements of the left limbs and torticollis. The patient also showed dysarthria and mild mental retardation. The CT scan of brain showed a heterotopic nodule at the margin of right lateral ventricle. The 2 cases reported here suggest that the early onset of hemi-dystonia with multiple nervous system disorders and the abnormal neuronal migration in human embryonic stage are related.
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PMID:[Neuronal heterotopia with hemidystonia]. 279 66

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.
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PMID:Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia. 281 91

This report describes a patient with degenerative type of progressive myoclonus epilepsy (PME), who showed slowly progressive deterioration of the central nervous system; intellectual impairment, dysarthria, and involuntary movements, particularly action myoclonus and dystonia. The patient was a 19-year-old woman who had no hereditary factors. At the age of 4, she developed action myoclonus in the upper limbs bilaterally. Her condition became gradually worse, and at the age of 15, she was admitted to our hospital because of involuntary movement in the upper limbs. First physical examination revealed mild mental retardation, action myoclonus, dystonia, and delayed adolescence. As giant SEP characteristic of PME and Ramsay Hunt syndrome was found, she was tentatively diagnosed as having Ramsay Hunt syndrome without epilepsy, and delayed adolescence. Now, she is 19 years old, and unable to walk alone because of involuntary movements and paralysis. But she has not developed epilepsy. As she has not been compatible with progressive myoclonus epilepsy (PME) and progressive myoclonic ataxia (PMA) classified by Marseille Consensus Group, she has been diagnosed as having an atypical PME syndrome.
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PMID:[A case of degenerative type of progressive myoclonus epilepsy]. 841

Anterior corpus callosotomy was performed in a patient with pseudobulbar palsy, mild mental retardation and intractable epilepsy related to congenital bilateral perisylvian cortical dysplasia. Before surgery, she had daily atonic drop attacks, rare and mainly sleep-related oromotor seizures, and multifocal and diffuse paroxysmal EEG discharges; after callosotomy, less abrupt atonic drop attacks recurred monthly and the EEG epileptiform abnormalities disappeared. Video-EEG sleep recordings revealed the clinically unsuspected serial recurrence of oromotor seizures, probably related to the clinically observed aggravation of dysarthria. New surgical techniques, in addition or alternative to callosotomy, should be developed in order to avoid or reduce the risk of aggravating some types of partial seizures in patients with bilateral cortical displastic lesions, intractable epilepsy and epileptic falls.
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PMID:Anterior corpus callosotomy: effects in a patient with congenital bilateral perisylvian syndrome and oromotor seizures. 853 19

We describe a novel, biotin-responsive basal ganglia disease in 10 patients. At onset, it appears as a subacute encephalopathy, with confusion, dysarthria and dysphagia with occasional supranuclear facial nerve palsy or external ophthalmoplegia, and progresses to severe cogwheel rigidity, dystonia and quadriparesis. These symptoms disappear within a few days if biotin (5-10 mg/kg/day) is administered, and there are no neurological sequelae. They reappear within 1 month if biotin is discontinued. Patients diagnosed late, or who have had repeated episodes, suffer from residual symptoms such as paraparesis, mild mental retardation or dystonia. The numerous biochemical studies of intermediary metabolism, like the autoimmune and toxicological studies, enzyme assays including biotinidase, carboxylase and lysosomal activities, and bacterial and viral studies were all normal. The aetiology may be related to a defect in the transporter of biotin across the blood-brain barrier. The only consistent radiological abnormality was central necrosis of the head of the caudate bilaterally and complete, or partial, involvement of the putamen on brain MRI. This was present during the initial acute encephalopathy and remained unchanged during follow-up of 3-10 years. Although its aetiology is unknown, it is important to recognize this disease, since its symptoms may be reversed and the progression of its clinical course prevented simply by providing biotin.
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PMID:Biotin-responsive basal ganglia disease: a novel entity. 967 79

Club foot is a common congenital deformity, for which a neurogenic process in utero has been proposed in some severe forms, but in most cases its cause remain uncertain. We report on four patients with an unilateral (three cases) or bilateral (one case) clubfoot and a bilateral perisylvian cortical dysplasia. All had severe dysarthria with mild mental retardation, epilepsy occurred in three cases. Direct evidence of fetal lesions of the spinal cord was occasionally present, such as signs of motor axonopathy in two cases analyzed by electrophysiological methods and syringomyelic cavitation at the thoracic level in one case. Even though the sensitivity of the investigations to demonstrate microcopic scars in the spinal cord remains weak, the presence of polymicrogyric rearrangements in the perisylvian cortex, known to proceed from a transient ischemic process occurring in the carotid territory during mid-gestation, strongly suggests that a similar mechanism occurred in the spinal cord. In fact, the foot deformity cannot be viewed as the consequence of lesions to brain regions that do not control the foot motility in the fetus. Extraneurological lesions such as jejunal atresia, possibly proceeding from localized vascular compromise, were also encountered. In one sibship, one sister was found to have a severe developmental anomaly of one foot, suggesting that genetic factors may be involved.
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PMID:Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero. 1505 85

We describe a 22-year-old woman with a de novo paracentric inversion of the long arm of chromosome 14 with breakpoints at q13 and q24 and associated with epilepsy, dysarthria and severe incapacitating involuntary movements present since birth. These movements were incessant when awake but absent when asleep. She had unusual facies with downward slant of palpebral fissures, epicanthi, broad philtral groove, flat malar region, large, cup shaped and low-set ears, and short neck. Her decidual and permanent dentition lacked all premolars and molars. Psychological assessment at ages 6 and 15 years showed mild mental retardation. In spite of the aggravation of the neurological symptoms no decline of mental capacity was observed. A brain MRI was normal at 19 years of age. Early on EEG showed changes compatible with partial epilepsy, and at later stages there was, contrary to expectation, only a mild background slowing. Urinary metabolic screening tests and a search for vacuolated lymphocytes were negative. Previously, four cases with a similar inversion have been described. Of these, three were familial with normal phenotype, and the fourth was de novo with severe mental retardation, microcephaly and involuntary movements. Our case is the second de novo inversion of the long arm of chromosome 14 with breakpoints at q13 and q24. The observations in the two patients suggest that this chromosomal rearrangement is associated with a congenital complex movement disorder.
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PMID:De novo paracentric inversion 14q13q24.1 in a patient with severe involuntary movements, epilepsy, oligodontia and dysmorphic features. 1551 27

Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development.
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PMID:Clinical and MRI findings of cerebellar agenesis in two living adult patients. 2729 41