1/60. prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by dna deletion analysis of cultivated amniocytes.AIM: Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy. methods: dna obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene. RESULTS: The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival motor neuron gene. No deletions of exon 5 in the neuronal apoptosis inhibitory protein gene were found. CONCLUSION: Direct dna deletion analysis of the survival motor neuron gene and neuronal apoptosis inhibitory protein gene in affected families represents a highly reliable and fast method for prenatal diagnosis of Werdnig-Hoffmann disease.- - - - - - - - - - ranking = 1keywords = motor neuron, neuron, motor (Clic here for more details about this article) |
2/60. Migrating atelectasis in Werdnig-Hoffmann disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1.Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy. Deletions in the survival motor neuron gene are believed responsible for autosomal-recessive SMA. SMA affects about 1 in 10,000 births. Symptomatic newborns have severe hypotonia, may have respiratory distress, may be unable to feed, and rapidly progress to death early in infancy. This paper describes another early pulmonary manifestation of SMA, i.e., migrating or rotating atelectasis, in 2 patients with infantile SMA. Migrating or rotating atelectasis may suggest the diagnosis of SMA.- - - - - - - - - - ranking = 0.3186975180346keywords = motor neuron, neuron, motor (Clic here for more details about this article) |
3/60. Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of ponto-cerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all. Early and progressive bulbar involvement with swallowing difficulties and stridor was also a common feature in these infants. Severe cognitive delay was invariably present. brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.- - - - - - - - - - ranking = 0.3186975180346keywords = motor neuron, neuron, motor (Clic here for more details about this article) |
4/60. Prenatal onset spinal muscular atrophy.Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero, severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype could be explained by their genotype. The diagnosis was confirmed by clinical, electrophysiological and histopathological features. polymerase chain reaction assays were used to define the molecular diagnosis. A gene-dosage assay was used to assess the quantity of centromeric survival motor neuron gene (SMNc) present. In all cases the telomeric survival motor neuron gene (SMNt) was absent. The SMNc gene was present but in reduced copy number compared with a control group of children with less severe type I SMA, so may be important in determining severity. In the differential diagnosis of reduced fetal movements, SMA should be considered. The clinical classification may in future be clarified by molecular genetic findings.- - - - - - - - - - ranking = 0.63739503606921keywords = motor neuron, neuron, motor (Clic here for more details about this article) |
5/60. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy.Hirayama's disease (HD) is frequently found in asia, and is rarely referred among westerners. It affects young people with higher incidence in males. It is a focal distal amyotrophy with unilateral or asymmetric bilateral involvement of C7, C8 and T1 innervated muscles. HD appears sporadically and has a benign evolution with clinical stabilization in around one year. We report four young male patients with clinical and electrophysiological alterations described in HD, which were followed-up during 5 years. Electromyographic findings were indicative of lower motor neuron involvement. We analyzed cervical MRI aiming at understanding if a questionable spinal cord compression could be implicated in the pathogenesis, but no abnormality was verified. In view of its clinical, and EMG characteristics, HD is no more than a benign monomelic amyotrophy (BMA) clinical variant, and not a specific disease. This eponym could be considered only for the distal upper limb variant (Hirayama's variant) of the BMA.- - - - - - - - - - ranking = 0.31870962031723keywords = motor neuron, neuron, motor, upper (Clic here for more details about this article) |
6/60. Acute onset of infantile spinal muscular atrophy.Two patients with acute generalized weakness and areflexia are presented. The electrophysiologic studies in both revealed evidence of decreased conduction velocity and mixed axonal and demyelinating neuropathy, suggestive of the diagnosis of guillain-barre syndrome. The young ages of the patients and their failure to respond to immunoglobulin therapy were the major clues to the final diagnosis of spinal muscular atrophy type I. blood for dna study revealed homozygous deletion mutation in exons 7 and 8 of the survival motor neuron gene. This diagnosis should be considered in every child under 1 year of age who presents with acute weakness because guillain-barre syndrome in this age group is rare.- - - - - - - - - - ranking = 0.3186975180346keywords = motor neuron, neuron, motor (Clic here for more details about this article) |
7/60. Juvenile asymmetric segmental spinal muscular atrophy (Hirayama's disease): three cases without evidence of "flexion myelopathy".Compression of the cervical spinal cord during neck movements ("flexion myelopathy") was proposed to be the main pathomechanism of juvenile asymmetric spinal muscular atrophy (JASSMA). We present 3 patients with the clinical appearance of JASSMA and typical high-intensity signals in the anterior horn cell region of the lower cervical spinal cord (T2-weighted magnetic resonance images) but without evidence of dynamic spinal cord compression. In all these patients pathomechanism distinct from mechanical damage must be assumed.- - - - - - - - - - ranking = 0.11905577624828keywords = anterior horn cell, anterior horn, horn cell, horn (Clic here for more details about this article) |
8/60. Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II.patients with infantile spinal muscular atrophy rarely decide to have their own children especially if there is major respiratory impairment. We studied prospectively the pregnancy course and outcome of a 34-year-old woman with spinal muscular atrophy type II who delivered a healthy boy. pregnancy was entirely uneventful, except that for 1-2 weeks after the caesarean section, the patient was extremely weak with dyspnoea and bulbar involvement. Several weeks after delivery her motor function had returned to pre-pregnancy levels. Pulmonary function remained stable throughout pregnancy, and thereafter, at approximately 70% predicted levels for forced vital capacity and for forced expiratory volume in 1 s. blood gases after midgestation revealed low normal PaO(2) values around 85 mmHg and concomitant hyperventilation resulting in PaCO(2) levels below 30 mmHg.- - - - - - - - - - ranking = 0.0095156971171621keywords = motor (Clic here for more details about this article) |
9/60. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.BACKGROUND: Mutations in the SCO2 gene have been associated with fatal cardioencephalomyopathy. OBJECTIVE: To report a novel SCO2 mutation with prominent spinal cord involvement mimicking spinal muscular atrophy (Werdnig-Hoffmann disease). PATIENT AND methods: An infant girl presented at birth with generalized weakness, hypotonia, and lactic acidosis. At 1 month of age she developed hypertrophic cardiomyopathy and died of heart failure 1 month later. Neuroradiological studies were unremarkable. Muscle biopsy specimens showed groups of atrophic and hypertrophic fibers, but mutation screening of the SMN gene was negative. Histochemical and biochemical studies of respiratory chain complexes were performed, and the whole coding region of the SCO2 gene was sequenced. RESULTS: Findings from muscle histochemistry studies showed virtually undetectable cytochrome c oxidase activity, but normal succinate dehydrogenase reaction. Biochemical analysis in muscle confirmed a severe isolated cytochrome c oxidase deficiency. Pathologic findings of the brain were unremarkable, but the ventral horns of the spinal cord showed moderate-to-severe loss of motor neurons and astrocytosis. Sequencing of the SCO2 gene showed the common E140K mutation, and a novel 10 base-pair duplication of nucleotides 1302 to 1311, which disrupts the reading frame of the messenger rna and gives rise to a truncated protein. CONCLUSION: The SCO2 mutations should be considered in the differential diagnosis of children with spinal muscular atrophy without mutations in the SMN gene.- - - - - - - - - - ranking = 0.31904167450957keywords = motor neuron, neuron, motor, horn (Clic here for more details about this article) |
10/60. Severe spinal muscular atrophy variant associated with congenital bone fractures.Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.- - - - - - - - - - ranking = 0.014635815298729keywords = neuron (Clic here for more details about this article) |
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