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PubMed2001

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-Barré 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-Barré syndrome in this age group is rare.

Acute Disease↗
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

Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy.

Results of computed tomographic (CT) examination of the skeletal musculature in 26 patients with Becker-type muscular dystrophy (BMD) and 12 patients with benign infantile spinal muscular atrophy (BISMA) are presented. Both disorders revealed strikingly different changes that may have important clinical significance. First, in BMD, CT abnormalities consisted of areas of decreased densities, at first appearing in part of the muscle, and then gradually spreading until the whole muscle was replaced by low-density tissue. In BISMA, however, low-density lesions were scattered throughout the muscle. Second, in BMD, some muscles were preferentially affected in an early stage of the disease and others were relatively spared, whereas in BISMA, the muscles were involved more or less simultaneously. Third, an enlargement in size (hypertrophy) was frequently observed in BMD in various muscles of the legs, whereas in BISMA, this phenomenon can sometimes be noted only in the gastrocnemius muscles.

Adolescent↗
PubMed1978

A study of environmental factors in relation to fatal infantile spinal muscular atrophy (SMA type I). An analysis of birth order and parental age effects, social class, seasonal influence, and clustering in time and place.

Major studies of the childhood spinal muscular atrophies have suggested that environmentally-produced phenocopies might occur, and that environmental factors might be important in some clinical features of these diseases. A formal analysis of some possible intra-uterine and post-natal influences has been undertaken in 78 index cases (72 families) of acute infantile SMA (acute Werdnig-Hoffmann disease; SMA Type I). There is no evidence to suggest that social class, parental age, birth order, or season of birth influences this disease or that clustering in time and place occurs.

Acute Disease↗
PubMed1992

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family.

We describe a family in which infantile Werdnig-Hoffmann disease and adult-onset progressive muscular atrophy both occurred. The possibility of these two diseases developing within the same family by chance is unlikely, and several genetic hypotheses may be put forward to explain the association. We suggest that the molecular pathogenesis of these two subtypes of lower motor neuron degeneration may be linked. The genetic defect in the childhood spinal muscular atrophies has been mapped to chromosome 5q in close proximity to the microtubule-associated protein 1B locus. The association of diseases within this family suggests that chromosome 5q should also be studied in relation to adult-onset familial motor neuron disease.

Aged↗
PubMed1983

Normal vitamin E status in spinal muscular atrophy.

In an attempt to confirm prior reports of vitamin E deficiency in Werdnig-Hoffmann disease, we assessed vitamin E nutritional status in 11 children and 6 adults with spinal muscular atrophy (SMA). Serum vitamin E levels (10.6 +/- 3.3 micrograms/ml for those less than 12 years old, 13.2 +/- 4.5 for those older than 12) and the ratio of serum vitamin E to total serum lipids were normal in all patients. Vitamin E nutritional status appears to be normal in SMA, and vitamin E therapy is not indicated.

Adolescent↗
PubMed1993

Ultrasound measurement of quadriceps muscle in the first year of life. Normal values and application to spinal muscular atrophy.

Using real-time ultrasound imaging normal values were obtained for quadriceps muscle thickness and subcutaneous tissue depth in the first year of life from 120 normal infants. These values were corrected for weight and height by introduction of a "correcting factor". In addition, a "modified muscle index" was calculated by multiplying the ratio of muscle to subcutaneous tissue thickness with the correcting factor and showed a steady increase from birth (mean 2.1) to the end of the first year (mean 4.8). The study of 12 patients with spinal muscular atrophy type I (SMA I) revealed that 9 out of 12 SMA I patients failed to reach the 3rd percentile for the muscle to subcutaneous tissue ratio and 10 out of 12 were well below the 3rd percentile for the modified muscle index due to their muscle atrophy. Only the two youngest SMA I patients aged 4 and 6 weeks reached values on the 3rd percentile. In contrast, 10 patients with myopathy and one patient with holoprosencephaly showed values within the normal percentiles even in the presence of severe clinical muscle weakness and signs of atrophy on muscle histology. In the differential diagnosis of early onset myopathy, atrophy of the quadriceps muscle during the first months of life in the absence of markedly increased echodensity seems to be a pathognomonic finding for SMA.

Body Weight↗
PubMed2001

Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin.

Disruption of the survival motor neuron (SMN) gene leads to selective loss of spinal motor neurons, resulting in the fatal human neurodegenerative disorder spinal muscular atrophy (SMA). SMN has been shown to function in spliceosomal small nuclear ribonucleoprotein (snRNP) biogenesis and pre-mRNA splicing. We have demonstrated that SMN also interacts with fibrillarin, a highly conserved nucleolar protein that is associated with all Box C/D small nucleolar RNAs and functions in processing and modification of rRNA. Fibrillarin and SMN co-immunoprecipitate from HeLa cell extracts indicating that the proteins exist as a complex in vivo. Furthermore, in vitro binding studies indicate that the interaction between SMN and fibrillarin is direct and salt-stable. We show that the glycine/arginine-rich domain of fibrillarin is necessary and sufficient for SMN binding and that the region of SMN encoded by exon 3, including the Tudor domain, mediates the binding of fibrillarin. Tudor domain missense mutations, including one found in an SMA patient, impair the interaction between SMN and fibrillarin (as well as the common snRNP protein SmB). Our results suggest a function for SMN in small nucleolar RNP biogenesis (akin to its known role as an snRNP assembly factor) and reveal a potential link between small nucleolar RNP biogenesis and SMA.

Amino Acid Sequence↗
PubMed2001

Lung clearance in children with Duchenne muscular dystrophy or spinal muscular atrophy with and without CPAP (continuous positive airway pressure).

Bronchiolar clearance was studied in 7 boys in the age range of 8 to 17 years, 6 with Duchenne muscular dystrophy (DMD) and 1 with spinal muscular atrophy type II (SMA-II). These boys had healthy lungs but a severely reduced muscular strength (wheelchair dependent). In 6 of the boys, clearance was studied twice, at one occasion as a control and at the other occasion following treatment with continuous positive airway pressure (CPAP). A control group of healthy adults was used. In the clearance examinations, 6-microm Teflon particles, labeled with III In was inhaled extremely slowly, 0.05 L/s. This gives a deposition mainly in the bronchioles. Lung retention was measured after 0,24,48, and 72 hours. A model for deposition of particles in the adult lung was scaled down to represent the children in this study. Deposition in various airway generations was calculated to be similar in children and adults. Also the measured retentions were similar in the boys and the adults. In the clearance experiments during CPAP treatment, there was a significantly lower retention after 72 hours (but not after 24 and 48 hours) than in the control experiments. Theresults indicate that a severe reduction of muscular strength, and thereby a reduction of mechanical movement of the lung, does not affect clearance from large and small airways. However, some effect of clearance from small airways cannot be excluded due to the short measuring period. The small but significant effect of the CPAP treatment might have potential clinical importance and suggest that bronchiolar clearance can be affected by some form of mechanical force.

Adolescent↗
PubMed1983

Unilateral spinal muscular atrophy. A case report.

A description is given of a 36-year-old man with muscular atrophy of the right upper and lower limbs. The onset of the disorder was at the age of 26, while the condition has been stationary for the past 6 years. The case has been diagnosed as a unilateral spinal muscular atrophy.

Adult↗
PubMed1994

Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.

Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protein (Gly73Arg substitution) was previously detected in both brothers and their mother, establishing the diagnosis of Pelizaeus-Merzbacher disease. Despite reported sparing of the peripheral nervous system in Pelizaeus-Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy.

Brain↗
PubMed1976

Familial progressive bulbar and spinal muscular atrophy. Juvenile onset and late morbidity with ragged-red fibers.

Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged-red" fibers, while electromyography and autopsy material were consisted with a neurogenic disease. The case seemed unique to any clinicogenetic nosology, because it was associated with a cardiac conduction defect, a mitochondrial abnormality in skeletal muscle, and a course, distribution, and degree of weakness that included features of both chronic spinal muscular atrophy and amyotrophic lateral sclerosis.

Adult↗
PubMed1996

X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family.

We report the clinical, neurophysiological, neuropsychological, neuropathological and molecular findings in a large family with X-linked bulbar and spinal muscular atrophy (X-BSMA). Molecular study, performed in 28 family members, showed an increase in the number of CAG repeats in 6 affected males (including 2 presymptomatic patients), and in 10 females, of whom 5 were obligate carriers. All symptomatic patients showed, besides the typical manifestation of X-BSMA, neurophysiological signs of sensory nerve involvement, and abnormal findings in neuropsychological tests. Sural nerve biopsy, performed in two patients, was consistent with axonal atrophy and slow-rate degeneration, with secondary demyelination. Neurophysiological alterations were also present in 6 out of 8 carriers, consisting of neurogenic EMG changes in 3 cases and abnormal sensory action potentials (SAP) and reduced conduction velocity of the sural nerve in 3 cases. Abnormalities of at last two neuropsychological tests were found in 6 out of 8 carriers. Alterations of the sensory nerves in X-BSMA patients have been previously reported in some cases; however, we demonstrate for the first time sensory nerve involvement also in carriers. Evidence of central nervous system involvement, with neuropsychological impairment in all symptomatic patients and in some carriers, is another feature of this family, not previously reported in X-BSMA. In spite of the variable phenotypic features, the number of CAG repeats ranged from 40 to 44 in the affected patients, indicating that phenotypic expression was not related to the size of the mutation, but was probably age-related.

Adolescent↗
PubMed1978

Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence.

An analysis of segregation and sex ratios, and of sex influence, was undertaken in a series of 78 index patients with acute infantile spinal muscular atrophy (SMA type I). The sex ratio of index patients was 2.0, and the excess of males was shown to occur principally among sporadic cases. The sex ratio of familial cases did not differ significantly from 1.0. The implications of this are discussed. No sex influence on age at onset, or on life expectancy, was present. The segregation ratio (Weinberg Proband method) was 0.29 for all index cases, and 0.26 for all cases excluding those referred specifically to a genetic counselling clinic. Autosomal recessivity is confirmed for this disease, with the probable inclusion of unrecognised male phenocopies in clinical series.

Acute Disease↗
PubMed1984

Progressive myoclonic epilepsy, nerve deafness and spinal muscular atrophy.

A boy of Finnish descent developed nerve deafness at six years of age, action myoclonus two years later, generalized myoclonic seizures when 16 years old and muscular atrophy at the age of 17 years. Bulbar palsy caused his death from inhalational pneumonia when he was 19 years old. Autopsy disclosed no significant changes in the cerebral cortex, thalamus, striatum, Purkinje cells or dentate nucleus. The most striking histological finding was degeneration of motor neurones in cranial nerves and anterior horns of the spinal cord, with neuroaxonal dystrophy of nucleus gracilis and cuneatus. While nerve deafness and spinal muscular atrophy have been recorded (each in different families) in association with progressive myoclonic epilepsy, the combination of these features has not previously been reported. Reasons are put forward for regarding all the system degenerations found in PME, including Unverricht-Lundborg disease (Baltic myoclonus) and the Ramsay Hunt syndrome, as variations of the same disorder.

Adult↗
PubMed1990

[Anesthetic management of a patient with progressive spinal muscular atrophy].

Various problems especially weakness of respiratory muscle and abnormal reaction to muscle relaxant exist during the management of anesthesia for the patients with neuromuscular disease with the disturbance of motor neurons. We had a patient for trans-urethral resection of prostate with spinal progressive muscular atrophy. Using nitrous oxide-oxygen with halothane, and without muscle relaxant, we succeeded in avoiding respiratory failure, aspiration and other serious complications. By measuring serum sodium, rapid discovery and treatment of water intoxication could be achieved.

Aged↗