Neurogenic muscular atrophy simulating facioscapulohumeral muscular dystrophy with particular reference to the heterogeneity of Kugelberg-Welander disease.
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Adult↗
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[Systemic diseases of the motor neurons. Amyotrophic lateral sclerosis, spinal progressive muscular atrophy, progressive bulbar paralysis, spastic spinal paralysis, peripheral nerve muscular atrophy].
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Amyotrophic Lateral Sclerosis↗
Caesarean section conducted under subarachnoid block in two sisters with spinal muscular atrophy.
Spinal muscular atrophy is a rare chronic neurological condition characterised by degeneration of the anterior horn cell. Experience with the anaesthetic management of the pregnant patient with this condition is limited. We report the clinical details of two wheelchair-bound sisters, who underwent elective caesarean section within a few weeks of one another. Both patients were safely managed with subarachnoid anaesthesia without any deterioration of their underlying neurological condition. It is hoped that this report will add to the evidence that subarachnoid anaesthesia can safely be used for caesarean section in chronic neurological conditions and, in particular, spinal muscular atrophy.
Journal Article↗
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.
We report the clinical, electrophysiological, and morphological observations of five infants with an unusual form of spinal muscular atrophy (SMA). In these infants muscular weakness and atrophy were initially restricted to the distal limbs and this pattern was associated with paralysis of the diaphragm. The difference between the clinical manifestations of this syndrome and the classical form of infantile spinal muscular atrophy (SMA type 1) as well as other congenital hereditary neuropathies is discussed.
Atrophy↗
Linkage disequilibrium and haplotype analysis among Polish families with spinal muscular atrophy.
Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a number of studies examining different populations. A total of 9 simple sequence repeat markers were genotyped against 32 Polish families with SMA. The markers span an approximately 0.7 cM region defined by the SMA flanking markers D5S435 and MAP1B. Significant linkage disequilibrium (corrected P < .05) was detected at four of these markers, with D/Dmax values of < or = .89. Extended haplotype analysis revealed a predominant haplotype associated with SMA. The apparently high mutation rate of some of the markers has resulted in a number of haplotypes that vary slightly from this predominant haplotype. The predominant haplotype and these closely related patterns represent 25% of the disease chromosomes and none of the nontransmitted parental chromosomes. This predominant haplotype is present both in patients with acute (type I) and in chronic (types II and III) forms of SMA and occurs twice in a homozygous state, both times in children with chronic SMA.
Adolescent↗
Craniofacial morphology of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is the second most common neuromuscular disease of childhood. It is the most common fatal recessive neuromuscular disease. This study is the first to evaluate the craniofacial growth of SMA patients. The results pertain to a sample of 25 SMA patients, between 5 and 32 y of age, who were case matched with unaffected normal controls. Group differences for 25 measures, derived from tracings of standardized cephalometric radiographs, were evaluated using multivariate analysis of variance. The SMA group showed excessive vertical development, particularly of the lower face. They demonstrated relatively larger anterior than posterior facial heights, due in part to a smaller cranial base angulation and a more anteriorly positioned mandibular ramus. Anteroposterior skeletal discrepancies of SMA patients, due to the combined effects of a protrusive maxilla and a retrusive mandible, were moderate. The interincisal angle of the SMA group was smaller than normal, due primarily to proclined maxillary incisors. Relative to palatal length, the SMA group had smaller anterior cranial base and mandibular corpus lengths. These results suggest abnormal craniofacial growth patterns of SMA patients. The etiology of the observed abnormalities seems to be complex and multifaceted, but attention to the treatment of malocclusion may be important for optimal nutrition and respiratory function.
Adolescent↗
Prenatal prediction of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.
Base Sequence↗
Evidence for compound heterozygosity causing mild and severe forms of autosomal recessive spinal muscular atrophy.
Spinal muscular atrophy is an autosomal recessive disease of motor neurone degeneration which shows a variable phenotype. Two candidate genes show deletions in affected subjects but with no distinction between different forms of the disease. We report an unusual family in which mild and severe SMA coexists and patients are deleted for the SMN gene. The father is affected with late onset SMA; therefore this family shows pseudodominant inheritance. When typed using closely linked flanking markers the severely affected son does not share the same haplotype as his sib, who is deleted for SMN but shows no signs yet of SMA. This supports the hypothesis that differences in SMA phenotype can be explained by a multiple allele model.
Adult↗
[Alternative treatment forms used by patients with muscular atrophy. A questionnaire study of the use of alternative treatment by 345 patients with muscular atrophy].
An investigation about the use of alternative treatment by a group of persons with muscular atrophy revealed that 24% had employed alternative treatment during the period 1.1.1983-1.4.1986. This is probably a greater proportion than in the Danish population as a whole. Patients with muscular atrophy were subdivided into three groups on the basis of their ability to function in daily life. No significant connection was found between the degree of loss of function and alternative treatment as regards the frequencies of alternative treatment and the numbers of treatments employed. A given form form of treatment was most frequently recommended by an unaffected acquaintance. Physical forms of treatment such as zone therapy and chiropractics were employed more frequently than chemical forms of therapy. Less than half of the patients were satisfied with the results of treatment. Treatment was often concluded in a negative manner. Patients considered that, in contrast to the alternative therapist, the doctor performs the best and most thorough examination and provides them with the best information about their condition.
Adolescent↗
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA).
We report three siblings (two boys and girl) with familial (autosomal recessive) infantile olivopontocerebellar atrophy (OPCA) associated with lower motoneuron involvement. Brain autopsy findings in two of the children revealed a multisystem degeneration characterized by marked hypoplasia of phylogenetically new parts of the brain stem (basis pontis and inferior olivary nuclei) associated with hypoplasia of the neocerebellum, both cerebellar and cerebral peduncle. All three infants died before six months of age. The clinical features are characterized by severe hypotonia, areflexia, failure to thrive, respiratory insufficiency in all cases, cardiomyopathy and dislocated hips at birth in two of the three siblings. Extensive serum, urinary and leukocyte enzyme assays in the second infant failed to disclose a specific metabolic abnormality. The diagnosis of OPCA was established prior to death by Magnetic Resonance Imaging (MRI) in the youngest infant. Since OPCA represents a heterogeneous group of diseases, correlation of neuropathologic, clinical, genetic and MRI findings at early stages of evolution becomes crucial in the understanding of the nosology of OPCA and its variants.
Female↗
RNA splicing: more clues from spinal muscular atrophy.
Spinal muscular atrophy is caused by mutations in the SMN1 gene, the product of which is part of a multi-component complex involved in the assembly of small nuclear ribonucleoproteins. A recent study indicates that SMN may also play a role in pre-mRNA splicing.
Cyclic AMP Response Element-Binding Protein↗
Severe depletion of mitochondrial DNA in spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a neuromuscular disorder in childhood leading to a dramatic loss of muscle strength. Functional investigations with high-resolution polarography and enzyme measurements of the respiratory chain revealed lowered activities in muscle tissue of SMA patients. To gain a better understanding of this low energy supply we analyzed the amount of mitochondrial DNA (mtDNA) in skeletal muscle of 20 unrelated children with genetically proven SMA and 31 controls. Quantitative Southern blot analysis revealed a severe and homogeneous decrease in the content of muscle mtDNA in relation to nuclear DNA in SMA patients (90.3+/-7.8%), whereas by immunofluorescence no decrease in the number of mitochondria was detected. In addition, a two- to threefold reduction of the nuclear-encoded complex II (succinate dehydrogenase) activity was detected in SMA muscle tissue. Western blot analysis showed a significant reduction of both mitochondrial- and nuclear-encoded cytochrome c oxidase subunits. Our results indicate that mtDNA depletion in SMA is a consequence of severe atrophy, and has to be differentiated by measurement of complex II from an isolated reduction of mtDNA as found in patients with mitochondriocytopathies and the so-called mtDNA depletion syndrome.
Adolescent↗
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a recessive autosomal disorder characterized by degeneration of lower motor neurons caused by mutations of the survival motor neuron gene (SMN1). No curative treatment is known so far. Mutant mice carrying homozygous deletion of Smn exon 7 directed to neurons display skeletal muscle denervation, moderate loss of motor neuron cell bodies and severe axonal degeneration. These features, similar to those found in human SMA, strongly suggest the involvement of a dying back process of motor neurons and led us to test whether neurotrophic factors might have a protective role in SMA. We report here the therapeutic benefits of systemic delivery of cardiotrophin-1 (CT-1), a neurotrophic factor belonging to the IL-6 cytokine family. Intra-muscular injection of adenoviral vector expressing CT-1, even at very low dose, improves median survival, delays motor defect of mutant mice and exerts protective effect against loss of proximal motor axons and aberrant cytoskeletal organization of motor synaptic terminals. In spite of the severity of SMA phenotype in mutant mice, CT-1 is able to slow down disease progression. Neuroprotection could be regarded as valuable therapeutic approach in SMA.
Animals↗
Spinal muscular atrophy.
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.
Chromosomes, Human, Pair 5↗
The molecular bases of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a common recessive autosomal disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.
Animals↗
Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy.
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene. Prenatal diagnosis is feasible and desirable by most families. We report on prenatal diagnosis of SMAI in a family where dried umbilical cord stump from the deceased affected baby was used to confirm the diagnosis. Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders.
Adult↗
Molecular studies of spinal muscular atrophy.
Spinal muscular atrophy (SMA) is inherited as an autosomal recessive disorder which presents as a severe, intermediate or mild condition. The disease selectively affects the alpha motor neuron but nothing is as yet known about the underlying biochemical defect. Recent genetic studies have mapped all three types of SMA to the same region of human chromosome 5 (5q11.2-q13.3) raising the possibility that the mutations may be allelic. Polymorphic DNA markers have been characterised which are suitable for prenatal diagnosis. This is the first step in the isolation of the mutant gene (or genes) involved in this disorder.
Animals↗
Motor unit number estimation in infants and children with spinal muscular atrophy.
Spinal muscular atrophy (SMA) is a disease of lower motor neurons. Motor unit number estimation (MUNE) is an electrophysiologic method to estimate the number of motor neurons innervating a muscle group. We applied the multiple point stimulation technique to the ulnar nerve--hypothenar muscle group to study lower motor neuron loss in 14 SMA subjects, including those presymptomatic, and varying from newborn through 45 years of age. Preliminary data support the value of MUNE to help understand the time course of motor neuron loss in SMA.
Action Potentials↗