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PubMed2002

Spinal muscular atrophy type 1: management and outcomes.

Our objectives were to describe survival, hospitalization, speech, and outcomes related to respirator needs for spinal muscular atrophy type 1 (SMA1) patients, using noninvasive or tracheostomy ventilation. From 65 SMA patients referred to our clinic since 1996, we chose 56 SMA1 patients who developed respiratory failure before age 2 years. Patients either had tracheostomy tubes (group A), or used noninvasive ventilation and assisted coughing; a previously reported extubation protocol (group B) was used as needed. Sixteen patients underwent tracheostomy at 10.8 +/- 5.0 months of age, 33 were in group B, and 7 others died without life-support interventions. Compared to group B, group A patients had fewer hospitalizations until age 3 years, but more after age 5, and 15 of 16 lost all spontaneous breathing tolerance posttracheostomy and could not speak. One group A patient died at 16 months of age, and the others were 73.8 +/- 57 months of age (the oldest was 19 years old). Two group B patients died at 6 and 13 months, respectively, whereas the other 31 were 41.8 +/- 26.0 months (and up to 8.3 years) old. Three of 31 in group B required high-span positive inspiratory pressure plus positive end-expiratory pressure (PIP + PEEP) continuously with minimal tolerance for breathing on their own, and 4 could not communicate verbally.In conclusion, SMA type 1 children can survive beyond 2 years of age when offered tracheostomy or noninvasive respiratory support. The latter is associated with fewer hospitalizations after age 5 years, freedom from daytime ventilator use, and the ability to speak.

Adolescent↗
PubMed2000

Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy.

Deterioration of respiratory function in patients with neuromuscular disorders is primarily responsible for the high mortality associated with these diseases. A review of Duchenne muscular dystrophy and spinal muscular atrophy, the leading neuromuscular disorders affecting children, will be followed by a critical analysis of the various pathophysiological mechanisms underlying respiratory manifestations in these patients. Among such mechanisms, the role of muscular weakness in preservation of lung function, mucociliary clearance, gas exchange at rest and during exercise, and respiratory control during wakefulness and sleep will be examined in detail. In addition, the potential benefits of respiratory muscle training and of early diagnosis and clinical intervention will be delineated. This review underscores the importance of periodic assessment of pulmonary function during wakefulness and sleep in children affected by neuromuscular diseases as an essential component of multidisciplinary care aimed at improving long-term morbidity, survival, and quality of life.

Humans↗
PubMed1985

Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.

Results obtained from a study of 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence suggest that the condition is not as homogeneous as it was previously thought. A tentative classification based on our results is proposed. Estimates of genetic risks are provided, taking into account the sex and age at clinical onset. In our opinion these factors are more reliable than the data hitherto available because they are based on a considerably larger series.

Adolescent↗
PubMed2004

Anesthesia for cesarean section in a patient with spinal muscular atrophy.

We describe the anesthetic management for cesarean section and tubal ligation of a 23-year-old primipara with type II spinal muscular atrophy (benign Werdnig Hoffmann). She was wheelchair-bound, had severe restrictive lung disease, and severe kyphoscoliosis, with Harrington rods extending from the thoracic to the sacral spines. A general anesthetic was given. We used propofol and alfentanil for rapid-sequence induction of anesthesia. We did not use any muscle relaxants intraoperatively. Postoperative care was provided in the intensive care unit. The patient made a good recovery.

Adult↗
PubMed1980

Mitochondrial functions in chronic spinal muscular atrophy.

We determined the respiration rate, respiratory control and ADP/O ratios, with different substrates in mitochondria isolated from seven patients with chronic spinal muscular atrophy and compared them with normal human muscle. In all cases studied, a severe alteration of the respiratory control with variable derangement of oxidative phosphorylation was found. Similar findings have been described in other neuromuscular disorders including the so-called "mitochondrial myopathy". We believe that this disturbance of mitochondrial function is non specific and only the hypermetabolic syndrome of Luft could be considered biochemically as a "mitochondrial myopathy", a disorder selectively involving mitochondria of skeletal muscle.

Adolescent↗
PubMed1988

Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.

Proximal lower limb weakness and fasciculations were the only clinical manifestations of hexosaminidase A (Hex A) deficiency in a 39-year-old woman. Hex A activity in serum and leukocytes was 0 to 4% by standard heat inactivation fluorogenic substrate methods, and 5% when Hex A isoenzymes were fractionated by diethylaminoethanol cellulose chromatography. Computed tomography of the brain showed cerebellar atrophy. We suggest that Hex A activity studies be done in patients with typical as well as atypical spinal muscular atrophy.

Adult↗
PubMed1990

Spinal muscular atrophy type I combined with atrial septal defect in three sibs.

All three children of an unrelated Norwegian couple were born with spinal muscular atrophy (SMA I) as confirmed by autopsy in two of them. Two of the children died at birth, whereas one lived for 7 weeks on support systems that included artificial ventilation. All three children had large atrial septal defects (ASD). One had valvular aortic stenosis. Another had arrhinencephaly and transient pleural effusion which was evacuated during pregnancy. The findings may reflect concurrence of unrelated disorders caused by genetic or environmental factors, segregation of linked genes, pleiotropism or the existence of a previously unknown disease.

Abnormalities, Multiple↗
PubMed2001

Depletion and sizes of motor units in spinal muscular atrophy.

Motor unit number estimation (MUNE) was applied to the biceps brachii muscles of 13 young patients (age 5--24 years) with spinal muscular atrophy (SMA) and the results compared with those of healthy control subjects matched for age and gender. In the SMA patients, all motor unit (MU) estimates fell below the control range, and there was good correspondence between the values for the two arms in the same subject. No correlation could be found between the MUNEs and the severity of the weakness. This unexpected result was attributed to the presence of small and normal-sized MUs in the muscles of patients, in addition to MUs that appeared to be considerably enlarged. The threefold mean increase in MU potential size was insufficient to compensate for the MU loss. In addition, the study confirmed that there are, on average, approximately 130 MUs in the healthy biceps brachii muscle.

Adolescent↗
PubMed2003

Reduction of the size of the Golgi apparatus of spinal anterior horn cells in patients with X-linked spinal and bulbar muscular atrophy.

The Golgi apparatus (GA) of spinal anterior horn cells was examined immunohistochemically in five patients with X-linked spinal and bulbar muscular atrophy (SBMA), in five patients with sporadic amyotrophic lateral sclerosis (ALS) and in five patients without neurodegenerative diseases. In SBMA cases, reduction of the size of the GA was observed in numerous anterior horn cells; however, fragmentation of the GA, previously described in sporadic and familial ALS with SOD1 mutations, was observed only in a few neurons. In addition, motor neurons bearing an intranuclear inclusion showed a normal network of elements of the GA. The frequencies of fragmented GA in counted motor neurons were 0-2.4 % in SBMA cases, 0-3.0 % in normal control cases and 15.7-55.3 % in ALS cases. The different frequency of fragmented GA between SBMA and ALS adds another finding of pathogenetic difference of neurodegeneration in these two motor neuron diseases.

Aged↗
PubMed1996

DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy.

Chromatin cleavage, a hallmark of apoptosis, was identified by in situ labeling in 55 +/- 7% of the muscle fibers in infantile spinal muscular atrophy (ISMA) and, to a lesser extent, in peripheral neuropathy indicating that DNA fragmentation is not specific to ISMA but a common feature in defect innervation. However, as DNA breaks are also known as a temporary process in differentiating myotubes DNA fragmentation may not always proceed to cell death. Therefore, it is currently not certain whether high rates of DNA fragmentation in ISMA are part of delayed muscle maturation due to neuronal defect or part of fibre breakdown. While atrophic muscle fibres in peripheral neuropathy displayed strong expression of bcl-2, a protein delaying onset of apoptosis, only 30% of the ISMA cases revealed weak bcl-2 expression assuming that immature muscle fibers are not able to produce a sufficient level of bcl-2.

Aged↗
PubMed1977

Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves.

Biopsy of the sural nerves distinguished two groups of patients with peroneal muscular atrophy (Charcot-Marie-Tooth): a hypertrophic type and a neuronal type. In patients with the hypertrophic type (10 nerves), 30-100 per cent of teased fibres of the sural nerve had demyelinated segments, numerous onion-bulb formations and often an increase in endoneurial space. Large and small fibres, with a diameter of more than 7 micron and less than 5 micron were diminished in number. Regeneration was scarce. There were more fibres with 60-120 myelin lamellae than in normal nerve, suggesting an atrophy of the axon. Biopsy of 19 sural nerves of patients with the neuronal type of PMA showed loss of large fibres (more than 7 micron in diameter). The number of small fibres was normal, presumably due to regeneration, since there were many "clusters" of small myelinated fibres. Fibres with demyelinated segments and onion-bulb formations were absent or rare and the endoneurial space was normal or slightly increased. Neither in the hypertrophic nor in the neuronal type did fibre loss occur selectively among the very largest fibres. Nine nerves from patients with hereditary spastic paraplegia and from a family with tremor and spasticity in addition to PMA showed changes similar in type but often milder in degree than nerves of the neuronal type of PMA. The number of unmyelinated fibres was normal in 12 of 21 nerves from patients with PMA; it was increased in 5 and diminished in 3 nerves.

Adolescent↗
PubMed2002

Genetic risk assessment in carrier testing for spinal muscular atrophy.

As evidenced by the complete absence of a functionally critical sequence in exon 7, approximately 94% of individuals with clinically typical spinal muscular atrophy (SMA) lack both copies of the SMN1 gene at 5q13. Hence most carriers have only one copy of SMN1. Combining linkage and dosage analyses for SMN1, we observed unaffected individuals who have two copies of SMN1 on one chromosome 5 and zero copies of SMN1 on the other chromosome 5. By dosage analysis alone, such individuals, as well as carriers of non-deletion disease alleles, are indistinguishable from non-carrier individuals. We report that approximately 7% of unaffected individuals without a family history of SMA have three or four copies of SMN1, implying a higher frequency of chromosomes with two copies of SMN1 than previously reported. We present updated calculations for disease and non-disease allele frequencies and we describe how these frequencies can be used for genetic risk assessment in carrier testing for SMA.

Alleles↗
PubMed1979

Chronic form of childhood spinal muscular atrophy. Are the problems of its genetics really solved?

The authors discuss the differences between the two large series of chronic childhood spinal muscular atrophies (SMA)--their own comprising 273 cases, and that of Pearn et al. comprising 141 cases. The main difference concerns the predominance of males in the clinically milder later-onset group in the present series. The data of Pearn et al. (1978a, b) are quite different. The reason for the discrepancies is apparently a different selection of material. The present material is highly selective in favour of chronic cases, and Kugelberg-Welander cases are well-represented, whereas the percentage of Kugelberg-Welander cases in the material of Pearn et al. was very small. Differences in selection also appear to be responsible for discordance in observations regarding influence of sex on the course of the disease. The present data seem to support the view that most of the cases revealing chronic forms of SMA (both mild and severe) are not distinct genetically. However, the possible existence of a distinct subgroup in which sex influence is strongly expressed is not excluded.

Adolescent↗
PubMed2006

Enterostomy tube placement in children with spinal muscular atrophy type 1.

OBJECTIVE: To determine the major complication rate in the first 30 days after enterostomy tube insertion in infants with spinal muscular atrophy (SMA) type 1. STUDY DESIGN: A retrospective case review of all children with SMA type 1 who had a gastrostomy or gastrojejunostomy tube placed by the image-guided technique at the Hospital for Sick Children from 1994-2004. Major complications were classified as peritonitis, aspiration pneumonia, respiratory failure, nonelective admission to the pediatric intensive care unit, and death. RESULTS: Twelve children were identified as having SMA type 1 with an enterostomy tube insertion. The median age at tube insertion was 6.1 months (range 2.2 to 15.8 months). Major complications in the first 30 days after the procedure included aspiration pneumonia (5/12 patients [41.6%]), respiratory failure requiring admission to the pediatric intensive care unit (4/12 [33%]), and death (2/12 [16.7%]). Children with development of aspiration pneumonia were significantly older at time of tube insertion (P < .05) than those with no aspiration. CONCLUSIONS: Major complications including death are seen in children with SMA type 1 in the first 30 days after enterostomy tube insertion.

Enteral Nutrition↗