Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A chart review of 23 girls diagnosed with the Rett syndrome (RS), seen at Oregon Health Sciences University-Child Development and Rehabilitation Center was conducted to identify specific motor problems. Hypotonia, loss of transitional movements, ataxia, motor apraxia, spasticity, kyphoscoliosis, and foot deformities proved to be characteristics of this syndrome. Clinical experience of the author and other therapists involved in the treatment of girls with RS suggests that physical therapy is useful in the management of these patients to maintain or increase motor skills and control deformities. Therapy techniques the author has found useful are presented and responses unique to RS patients are described.
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PMID:Motor disabilities in the Rett syndrome and physical therapy strategies. 234 13

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.
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PMID:[Rett syndrome. A report of fifteen cases]. 253 56

Neuromuscular deficits described in early childhood as motor awkwardness or slow movements are still clinically present in school-aged boys with XXY and XYY sex chromosome aneuploidy. A control group of 14 boys (6 to 19 years of age) and 14 XXY and four XYY boys (6 to 15 years of age), identified by newborn screening, were blindly evaluated by a physical therapist. The Bruininks-Oseretsky Test of Motor Proficiency (BOTMP) was administered and a clinical rating of neurologic status and sensory-motor integration was assigned. On the motor proficiency test, the XXY boys had significantly lower mean scores for upper limb coordination, speed and dexterity, and on gross motor and battery composites. The neuromuscular status of the aneuploid boys was deficient, with hypotonia, apraxia, primitive reflex retention, and problems with bilateral coordination and visual-perceptual-motor integration. This mild to moderate dysfunctional sensory-motor integration, as well as previously described auditory-processing deficits and dyslexia, contributed to school performance below that expected from their cognitive potential.
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PMID:Gross and fine motor development in 47,XXY and 47,XYY males. 361 95

Lingual motricity was prospectively studied in 32 consecutive stroke patients with hemiparesis or hemiplegia involving the face. We excluded patients with vertebrobasilar infarcts, controlateral stroke, arteriovenous malformations, internal carotid artery dissection, severe aphasia or severe bucco-lingual apraxia. The study population consisted of 18 males and 14 females with a mean age of 64.2 years. Seventeen patients had a lesion located in the right hemisphere and 15 in the left one. The lesion was of ischemic origin in 19 patients and hemorrhagic in 13. Lingual motricity was studied at rest and at protraction. We recorded whether the following abnormalities were present: lingual deviation, limitation of protraction or lateral movements, atrophy, hypotonia and fasciculations. Sixteen patients had a deviation of the tongue at protraction. The other abnormalities were deviation of the tongue at rest, limitation of lateral movements at protraction, unilateral lingual hypotonia and limited protrusion. Of 16 patients with deviation of the tongue at protraction, 10 had no deviation at rest. Of the 6 remainders, 2 had deviation of the tongue towards the opposite side, at rest, and 4 towards the same side. Most patients with deviation of the tongue at protraction, had a lesion of the posterior limb of the internal capsule and of the posterior part of the lenticular nucleus. Most patients without lingual deviation, had a lesion of the capsule-lenticular region and of the superior portion of the internal capsule, just under the corona radiata.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Lingual motility in unilateral hemispheric vascular complications. Study of the cortico-hypoglossal afferences]. 767 21

Detailed neurological, speech and language, psychological, and neuroimaging studies were carried out in eight children with the diagnosis of congenital ocular motor apraxia. The neurological examination showed clinical evidence of cerebellar vermis abnormality (hypotonia and truncal ataxia) in all cases. Neuroimaging studies suggested that the site of neuropathological disturbance of congenital ocular motor apraxia was the inferior vermis. Half of the subjects had associated speech apraxia. The most likely location of brain disturbance, which was responsible for the speech apraxia, was also an as yet undefined area of the vermis. Psychological testing consistently revealed visual-spatial difficulties. These may have been secondary to cerebellar pathology or to developmentally inappropriate sensory input caused by the abnormal saccades. Children with speech apraxia appear to be slightly more affected neurologically than those with normal speech.
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PMID:Speech, cognition, and imaging studies in congenital ocular motor apraxia. 948 97

We prospectively studied motor symptoms in 32 patients with CT- or MRI-proven acute pure parietal stroke. A transient, mild, 'pseudoparesis' of the hand (90%), was noted, improved by visual attention and prompting, associated with non-awareness of muscle power (53%), transient soft pyramidal signs (50%), unilateral akinesia (100%) and motor hemineglect (37%) in non-dominant lesions. Lower motoneurone-type atrophy was not observed in this acute phase. We called 'poikilotonia' the striking unpredictable variations in muscle tone, ranging from extreme hypertonia to hypotonia, found in all patients. When maintaining postures, patients showed large oscillations (100%), laterodeviation or levitation of the arm (60%), especially in the case of large or posterior lesions, or, occasionally (3%), motor persistence or even hemicatalepsy (3%). Limb kinetic and manipulatory apraxia, with inadequate organization and anticipation of motor sequences and synergies, motor arrests, perplexity, unrecognizable gestures and loss of bimanual coordination, was a constant finding (100%). Other apraxias (62%) and difficulty in copying intransitive gestures of the hand (84%) were associated with posterior lesions involving the supramarginal gyrus. When reaching towards objects, all patients showed abnormal anticipatory hand shaping, but visuomotor ataxia (3%) was only seen with bilateral posterior stroke. Sensory (70%) or pseudocerebellar (4%) ataxia, was seen in both anterior and posterior lesions. Avoidance behaviors (34%) were not uncommon, but had no localizing value. Of the dyskinesias, hand dystonia (84%) was frequent, but athetosis (16%), asterixis (15%), postural tremor (15%), myoclonus (9%) and stereotypia (9%), were uncommon. The abnormal eye movements were unilateral hypo-akinesia of exploratory saccades (43%), abnormal ipsilateral pursuit and contralateral optokinetic nystagmus in the case of posterior lesions, and oculomotor apraxia with bilateral posterior lesions. In conclusion, parietal motor syndrome can be recognized during bedside examination, and probably reflects the loss of multiple sensory feedback to motor programs, especially those directed to the extrapersonal space.
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PMID:Parietal motor syndrome: a clinical description in 32 patients in the acute phase of pure parietal strokes studied prospectively. 987 53

The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome.
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PMID:Clinical features and revised diagnostic criteria in Joubert syndrome. 1048 3

Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus--the junction of the pons and mesencephalon. Interestingly, 1 in 10 patients with Joubert syndrome has abnormal cerebrospinal fluid collections misdiagnosed as Dandy-Walker variants. Because of important differences in patient management, genetic counseling, and prognosis between these conditions, we undertook a study to determine if the brainstem isthmus is normal in Dandy-Walker syndrome. Using standard landmarks, we evaluated development of the isthmus in normal subjects and in subjects with Joubert syndrome and Dandy-Walker syndrome. Four of five brainstem measures increased with age in normal subjects. In subjects with Joubert syndrome, the depth and length of the interpeduncular fossa were increased, and the width of the isthmus was decreased. In subjects with Dandy-Walker syndrome, the width of the brainstem isthmus was normal, and the molar tooth sign was absent. Although the pons can be hypoplastic in Dandy-Walker syndrome, we conclude that the pontomesencephalic junction is normal. Thus, the molar tooth sign can effectively distinguish between Joubert and Dandy-Walker syndromes. Genetic heterogeneity or epigenetic factors may account for abnormal cerebrospinal fluid collections in some cases of Joubert syndrome.
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PMID:Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. 1166 49

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
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PMID:Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). 1261 69

This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velo-pharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are sporadic, without dysmorphological features, chromosomal, or MRI brain abnormalities. Electrophysiological studies indicate the brainstem as the site of the neurological dysfunction. Post-mortem CNS study of one of the patients demonstrated neuronal depletion of the IV, VII, VIII, and IX cranial nerve nuclei and intact morphology of the cerebral hemispheres. A vascular accident, early in foetal life, is the most likely cause of the clinical picture. The extent of brainstem involvement and its related clinical findings distinguishes these patients from those with Moebius, Pierre Robin, or Cogan syndromes. Outcome is better than what could be anticipated during the first few months of life given the severity of symptoms. Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up.
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PMID:Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia. 1282 4


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