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PubMed1989

Spinal muscular atrophy in Brown Swiss calves.

Nineteen Brown Swiss calves affected with spinal muscular atrophy were described. Weakness of the rear legs was the first sign observed at 3 to 4 weeks of age. Terminal stages were characterized by severe muscular atrophy, quadriparesis, and sternal recumbency. Bronchopneumonia was a frequent complicating disease. Microscopic changes consisted mainly of degeneration and loss of motor neurons in the ventral horns of the spinal cord. Neurogenic atrophy of muscles was a constant finding. Electron microscopy revealed accumulation of neurofilaments and mitochondria in affected neurons. The disease shares many features with Werdnig-Hoffmann disease in man and the spinal muscular atrophies of other animals.

Animals↗
PubMedDate not supplied

Spinal surgery in spinal muscular atrophy.

Fifteen patients with surgical treatment of spinal muscular atrophy were reviewed. The curve pattern was thoracic in 3, thoracolumbar in 11, and double thoracic and thoracolumbar in 1. Follow-up averaged 31 months. Eleven patients underwent posterior spinal fusion with Harrington instrumentation, with segmental wiring in four, and two had Luque instrumentation. The average age at time of surgery was 14.4 years. The average curve correction was 48%; that with the pelvic obliquity corrected, 63%. Surgery is best done when the curve is approximately 50-60 degrees, and Luque sublaminar wiring of Harrington or Luque rods with no external support appears to be the procedure of choice.

Adolescent↗
PubMedDate not supplied

Kinematic analysis of patients with spinal muscular atrophy during spontaneous breathing and mechanical ventilation.

Patients with infantile spinal muscular atrophy develop pectus excavatum along with a severe restrictive syndrome as a result of failure to expand the upper chest wall and lungs because of intercostal muscle weakness. By using an automatic motion analyzer to provide three-dimensional computer analyses of images sampled at 25 Hz, 9 spinal muscular atrophy Type II patients and 13 controls underwent kinematic analysis of thoracoabdominal movements partitioned into the upper thorax, lower thorax, and abdominal volume compartments. The analyses were performed during spontaneous breathing for the controls and during spontaneous breathing and while using mechanically assisted ventilation for the patients. Vital capacity, maximum inspiratory pressures, and nocturnal oxyhemoglobin saturation and transcutaneous carbon dioxide tensions were also measured for the patients. The kinematic data demonstrated a paradoxical ventilatory pattern for the spontaneously breathing SMA patients with the following inspiratory volume changes: upper thorax, -6.4+/-9.6%; lower thorax, 7.3+/-15.8%; abdominal, 99.1+/-21.3%. During mechanical ventilation, the compartmental volume changes were as follows: upper thorax, 13.5+/-6%; lower thorax, 13.7+/-7.9%; abdominal, 72.7+/-9.3%. This kinematic pattern is comparable with that seen in spontaneously breathing normal subjects. We conclude that mechanical ventilation can normalize kinematic volume changes during alveolar ventilation and that this might help deter loss of thoracic compliance caused by the chronic hypoventilation of the upper thoracic compartments. Kinematic analysis may be helpful for choosing the ventilation parameters to optimize therapeutic benefits.

Biomechanical Phenomena↗
PubMed1996

Mitochondrial myopathy simulating spinal muscular atrophy.

A patient with a severe progressive neuromuscular disorder resembling spinal muscular atrophy is reported. The initial muscle biopsy was consistent with a denervating process. DNA analysis did not reveal deletions in exons 7 and 8 of the survival motor neuron gene. Histology, histochemistry, and biochemistry of a second muscle biopsy suggested mitochondrial myopathy accompanying the denervating features. Immunohistochemistry using anti-DNA antibodies revealed only nuclear staining in skeletal muscle, suggesting mitochondrial DNA depletion. In patients with clinical features of spinal muscular atrophy and no deletions in the survival motor neuron gene, mitochondrial DNA depletion should be considered.

Biopsy↗
PubMed1995

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritance of alleles from one or both parents. The inheritance of a null allele was observed in 26 out of 36 (72%) informative childhood onset spinal muscular atrophy (SMA) families tested, of all types of severity and from a variety of ethnic backgrounds. In seven families segregating for the severe Werdnig-Hoffmann or SMA type I, no alleles were inherited from either parent using this microsatellite. This null allele may represent a deletion which is either closely associated with, or causes, the disease.

Alleles↗
PubMed1981

Diaphragm pacing in spinal muscular atrophy: case report.

A patient with a diagnosis of intermediate or benign spinal muscular atrophy was severely incapacitated from respiratory complications and alveolar hypoventilation and was confined to mechanical ventilatory support. After extensive diagnostic evaluation of her pulmonary status, including transcutaneous stimulation of the phrenic nerves associated with nasogastric and surface electrode recording of the diaphragmatic response, this patient had a phrenic neurostimulation system implanted bilaterally for diaphragm pacing. Although spinal muscular atrophy has not been previously recognized as an indication for diaphragm pacing, her subsequent social, physical, and psychological improvement indicate that it may be significantly beneficial in selected cases of alveolar hypoventilation due to spinal muscular atrophy or neuromuscular disease.

Adolescent↗
PubMed1983

Chronic asymmetrical spinal muscular atrophy.

The clinical and neurophysiological features of 18 cases of chronic asymmetrical spinal muscular atrophy are described. These were patients presenting with asymmetrical neurogenic atrophy involving one or more limbs who had no evidence of pyramidal tract dysfunction after 3 or more years of symptoms. There were twice as many males as females and the mean age of onset of the disorder was about 32 years. None of the patients had bulbar involvement. The tendon reflexes tended to be depressed. The distribution of muscle weakness in the limbs was very variable, and only slowly progressive. In 5 cases symptoms and signs were confined to the hands and forearms. Motor nerve conduction velocities to wasted muscles were slightly reduced but there was no evidence of generalised neuropathy. A diagnosis of chronic asymmetrical spinal muscular atrophy, as opposed to that of classical motor neurone disease, is favoured by an age of onset under 40 years, an absence of pyramidal signs or bulbar involvement after 3 years or more of symptoms, and depressed or absent tendon reflexes. The 2 conditions appear to be clinically distinct and prognosis is considerably better in chronic asymmetrical spinal muscular atrophy. The aetiology of this condition in unknown; it may be of relevance that 2 patients in this series had close relatives with Werdnig-Hoffmann disease.

Adult↗
PubMed1995

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.

An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.

Adolescent↗
PubMed1993

Spine surgery in spinal muscular atrophy: long-term results.

Fifteen patients with spinal muscular atrophy operated on for scoliosis were reviewed and interviewed. Age at time of surgery averaged 16 yr. Follow-up averaged more than 5 yr. Eleven patients underwent posterior spinal fusion with Luque instrumentation. Four had Harrington instrumentation, with segmental wiring in three. Three out of the 15 also had anterior fusion with Dwyer instrumentation. Patients were immobilized in cast or brace for 6 months, on average, after surgery. The average curve correction was 50%. There was a loss of vital capacity after the operation, which in most cases was regained with time. In functional terms, there were improvements and deteriorations both in the short and long term. Esthetic appearance improved in all patients, as did the perceived well-being. Retrospectively all but one would have the operation again.

Adolescent↗
PubMed1989

Non familial juvenile distal spinal muscular atrophy of upper extremity.

An uncommon variety of non familial, juvenile onset, spinal muscular atrophy with asymmetric distal upper extremity affection is described. One hundred and two patients with a one to 14 year follow up are analysed. Spinal muscular atrophies with a distal distribution are rare. However, in the past three decades, previously unrecognised varieties of neurogenic muscular atrophy have been described in Asia (Japan, India, Sri Lanka and Singapore) under a variety of names. These provide interesting data for discussion of Asian neurogenic muscular atrophies with distal affection, in the context of diseases of the motor neuron.

Adolescent↗
PubMedDate not supplied

Labor analgesia and anesthesia in a patient with spinal muscular atrophy and vocal cord paralysis. A rare and unusual case report.

BACKGROUND AND OBJECTIVES: A case of labor analgesia and anesthesia in a 23-year-old woman with spinal muscular atrophy and vocal cord paralysis is reported. As spinal muscular atrophy is a progressive degenerative disorder of spinal anterior horn cells, with generalized neuromuscular weakness as a common sequela, the goal of anesthetic management is to provide satisfactory labor analgesia and anesthesia with minimal compromise of respiratory function. METHODS: A lumbar epidural anesthetic technique was used to provide satisfactory labor analgesia and anesthesia for a low forceps delivery. RESULTS: The anesthetic technique provided a safe delivery. As the patient was awake, she was able to assist with the expulsion phase of labor. The rare published reports of spinal muscular atrophy and obstetric management are reviewed, the known pertinent physiologic derangements of the syndrome in concert with pregnancy being detailed, along with any information provided regarding anesthetic techniques. CONCLUSIONS: It is believed that labor analgesia and anesthesia can be provided adequately with lumbar epidural techniques. An understanding of the physiology underlying spinal muscular atrophy is essential to safe anesthetic management of the laboring parturient.

Adult↗
PubMed1978

Segregation analysis of chronic childhood spinal muscular atrophy.

A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families. Ascertainment of index patients was by incomplete multiple selection. Three types of segregation analysis were performed: Weinberg Proband, an improved Weinberg Proband with a variance corrected formula for differences both in family size and ascertainment probability and a backeting technique assuming the extremes of both single and of truncate selection. All three methods gave similar results. The improved Weinberg Proband method with corrections for differences in ascertainment and in family size gave a segregation ratio of 0.18 and a 95% confidence range of 0.11 to 0.25. The mid-point of the bracketing method assuming extremes of truncate and of single selection was 0.19. The segregation ratio of that group of children with clinical onset before 9 months of age was 0.21, which does not differ significantly from the 0.25 predicted on the basis of autosomal recessivity. Evidence is presented to indicate that 25% of index patients may be due to new dominant mutations, or phenocopies, or both, and that these occur particularly among sporadic cases with clinical onset over 2 years of age. Empirical risk figures for use in genetic counselling are presented, and the literature of the subject is reviewed.

Child, Preschool↗
PubMed2001

Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN.

SMN, the affected protein in spinal muscular atrophy (SMA), is a cytoplasmic protein that also occurs in nuclear structures called "gems" and is involved in snRNP maturation. Coilin-p80 is a marker protein for nuclear Cajal bodies (coiled bodies; CBs) which are also involved in snRNP maturation, storage or transport. We now show that gems and CBs are present in all fetal tissues, even those that lack gems/CBs in the adult. Most gems and CBs occur as separate nuclear structures in fetal tissues, but their colocalization increases with fetal age and is almost complete in the adult. In adult tissues, up to half of all gems/CBs are inside the nucleolus, whereas in cultured cells they are almost exclusively nucleoplasmic. The nucleolar SMN is often more diffusely distributed, compared with nucleoplasmic gems. Up to 30% of cells in fetal tissues have SMN distributed throughout the nucleolus, instead of forming gems in the nucleoplasm. The results suggest a function for gems distinct from Cajal bodies in fetal nuclei and a nucleolar function for SMN. Spinal cord, the affected tissue in SMA, behaves differently in several respects. In both fetal and adult motor neurons, many gems/CBs occur as larger bodies closely associated with the nucleolar perimeter. Uniquely in motor neurons, gems/CBs are more numerous in adult than in fetal stages and colocalization of gems and CBs occurs earlier in development. These unusual features of motor neurons may relate to their special sensitivity to reduced SMN levels in SMA patients.

Adult↗
PubMed1995

Programmed cell death and the gene behind spinal muscular atrophy.

A gene involved in the development of spinal muscular atrophy (SMA) has been found on human chromosome 5 after a 4-year search. Named the neuronal apoptosis inhibitor protein (NAIP) gene, it is believed to inhibit the normal process of apoptosis--the disintegration of single cells that results from programmed cell death--in motor neurons. The researchers who found the NAIP gene also discovered that healthy people carry one complete copy of the gene along with many other partial copies. Many children with SMA have the partial copies but not the complete gene. This discovery facilitates the accurate genetic diagnosis of SMA. But gene therapy for SMA will not be possible until researchers find a suitable vector to stably introduce activated and intact copies of the gene into the motor neurons of children with SMA in time to stop motor neuron loss.

Apoptosis↗
PubMed1994

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French-Canadian population.

Spinal muscular atrophy (SMA) is, after Duchenne muscular dystrophy, the most common neuromuscular disorder in childhood. The gene responsible for childhood SMA has been mapped to the q11.2-q13.3 region of chromosome 5. We have extended our linkage studies of SMA in the French-Canadian population to include microsatellite markers at the D5S125, D5S351, D5S435, JK53CA1/2 and MAP1B loci. These markers span about 4 cM of the SMA candidate region. We observed significant evidence for linkage between SMA and all the markers tested. The analysis of recombinant chromosomes provide evidence for the following genetic order: D5S125-D5S435-MAP1B-3'-JK53CA1/2 and places D5S351 proximal to JK53CA1/2. Furthermore, we confirm the current localization of the SMA gene distal to D5S435. Finally, we provide demonstration of significant linkage disequilibrium between childhood-onset SMA and four of the five marker loci, D5S125, D5S435, D5S351 and JK53CA1/2. Analysis of SMA-region haplotypes suggests that there may be a predominant SMA allele that is present on about 17% of SMA chromosomes in this sample of the French-Canadian population. We conclude that the observed linkage disequilibrium is likely due to genetic drift among regions of Quebec, consistent with this population's early history.

Age of Onset↗
PubMed1994

Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

Childhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that have been isolated from this interval, several of which show sequence homologies to exons of beta-glucuronidase. These gene sequences are repeated several times across the candidate region and are also present on chromosome 5p. The arrangement of these repetitive gene motifs is polymorphic between individuals. The high degree of variability observed may have some influence on the expression of the genes in the region. Since SMA is not inherited as a classical autosomal recessive disease, novel genomic rearrangements arising from aberrant recombination events between the complex repeats may be associated with the phenotype observed.

Amino Acid Sequence↗
PubMed2001

[Diagnostic progress in spinal muscular atrophy].

Progress of diagnostic methods in recognition of spinal muscular atrophy (SMA), the most common degenerative disease of the nervous system in children has been observed in the last years. It has been proved, that all types of SMA, phenotypically variable Werdnig-Hoffman and Kugelberg-Welander diseases are results of homozygous absence of the telomeric copy of SMN gene located on the long arm of chromosome 5; this discovery was very important for mechanisms investigation. Based on the evolution of SMA diagnostic, the results of diagnostic in 18 children hospitalized in the Department of Pediatric Neurology Collegium Medicum of Jagiellonian University are presented. In the years 1995-1997 the basic procedure for confirming the diagnosis of SMA has been muscle biopsy. Molecular studies introduced in 1998 were a chance for confirmation not only classical, but other than three main clinical SMA phenotypes. The molecular analysis performed in children allowed to confirm diagnosis in 7 patients, showing in 5 cases absence of exon 7 of the SMN gene and in 2 children detecting deletions involving SMN and NAIP genes. In the less typical cases the results of molecular analysis were less definite.

Adolescent↗