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PubMed1992

Spinal muscular atrophy: MR evaluation.

The neurogenic myopathy of spinal muscular atrophy (SMA) is degeneration of anterior horn cells of the spinal cord and associated muscle weakness. In three patients with the severe type, according to Dubowitz's classification, magnetic resonance imaging (MRI) of the lower extremity showed severe atrophy of the entire muscle bundles of the thigh and the calf. Nine intermediate type patients had ragged atrophy of muscle bundles of the thigh and the calf with selective preservation of adductor longus muscle. Five patients with the mild type had fatty infiltration of muscle bundles and increased intermuscular fat planes. MRI was insufficient for the evaluation of cervical cord abnormalities. MRI of the lower extremity was a reliable complementary modality for the diagnosis and follow-up of SMA patients.

Child↗
PubMed2000

Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness.

A newborn presented with respiratory insufficiency requiring artificial ventilation, inability to swallow, lack of spontaneous movements including the facial muscles, and areflexia. Nerve conduction velocities were not recordable. Molecular analysis showed a homozygous deletion in the spinal muscular atrophy (SMN) gene region on chromosome 5q. Pathological and neuropathological examination revealed a normal number of anterior horn cells, hypomyelinated axons in peripheral nerves and some atrophy of skeletal muscle fibres in combination with sarcoplasmic glycogen accumulation. This observation illustrates that severe congenital neuropathy can result from deletions in the SMN gene.

Axons↗
PubMed1992

Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.

We report on a family in which both Werdnig-Hoffmann disease (severe infantile-onset spinal muscular atrophy) and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig-Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.

Adult↗
PubMed1985

Neurogenic muscular atrophy in Behcet's disease.

A child is reported with Behcet's disease who presented with skin and joint manifestations, oral ulcers, brainstem syndrome and neurogenic muscular atrophy. The neurogenic muscular atrophy was confirmed by electrophysiologic, histologic and histochemical studies. Electron microscopy of muscle showed a vasculopathy. The possible etiology of the muscle lesions is discussed. The relevant literature on muscle and peripheral nerve involvement in Behcet's disease is reviewed. It is proposed that neuromyopathy be added to the neurological manifestations of Behcet's disease. To our knowledge, this is the first case of neurogenic atrophy reported in Behcet's disease.

Behcet Syndrome↗
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↗
PubMed2003

Prevention of pectus excavatum for children with spinal muscular atrophy type 1.

To demonstrate the elimination of pectus excavatum and promotion of more normal lung growth and chest wall development by the use of high-span positive inspiratory pressure plus positive end-expiratory pressure (PIP+PEEP), patients with spinal muscular atrophy type 1 with paradoxical breathing were placed on high-span PIP+PEEP when sleeping from the point of diagnosis of spinal muscular atrophy. Although the appearance of pectus excavatum is ubiquitous in untreated infants with spinal muscular atrophy type 1, after institution of high-span PIP+PEEP, pectus resolves and lungs and chest walls grow more normally. High-span PIP+PEEP is indicated for all infants diagnosed with spinal muscular atrophy who demonstrate paradoxical breathing for the purpose of promoting more normal lung and chest development.

Child↗
PubMed2003

Spinal muscular atrophy type 1 quality of life.

OBJECTIVE: To compare healthcare professionals' assessment of the quality of life of spinal muscular atrophy type 1 children with that of the care providers for the children. DESIGN: The care providers of all 53 surviving spinal muscular atrophy type 1 children managed in one neuromuscular disease clinic were sent Likert-scale surveys of six quality of life issues and ten polar-adjective pairs. The quality of life estimations were compared with those of 67 clinicians and with those of 30 parents considering their unaffected children. RESULTS: One hundred care providers from 46 out of the 53 families (87%) responded. Although the clinicians' mean estimate of the children's quality of life was 2.85 +/- 0.2/10, the care providers' estimate was 7.81 +/- 0.2/10 (P < 0.0001). The care providers also found life with the children to be satisfying (6.0 +/- 0.2/7), interesting (6.6 +/- 0.1/7), friendly (6.1 +/- 0.1/7), enjoyable (6.3 +/- 0.1/7), worthwhile (6.7 +/- 0.1/7), full (6.6 +/- 0.1/7), hopeful (5.9 +/- 0.2/7), and rewarding (6.4 +/- 0.1/7), and they estimated the children to be happy (8.5 +/- 0.2/10) and their lives worth living (9.6 +/- 0.1/10). However, 69 of 104 felt that their lives were hard rather than easy, and 56 of 104 reported feeling tied down rather than free. Although the effort they felt for raising the child was high (8.3 +/- 0.3 by comparison with 5 for an unaffected child), the burden they felt in doing so was not (5.8 +/- 0.3/5). When asked whether they would or would not recommend ventilator use, 31 clinicians (45.5%) indicated they would, 24 (36.4%) would not, and 12 (18.2%) chose not to respond to this question. Care provider responses did not differ significantly from the responses of the parents of unaffected children except for the easy/hard semantic differential (care providers, 3.80 +/- 1.75 controls, 5.27 +/- 1.14, < 0.001). CONCLUSIONS: Although there is a widespread perception that spinal muscular atrophy type 1 children have a poor quality of life, this perception is not shared by their care providers.

Adult↗
PubMed1993

Dominant inherited distal spinal muscular atrophy with atrophic and hypertrophic calves.

The clinical, electrophysiological, radiological and morphological data of 3 members of a family with autosomal dominant distal spinal muscular atrophy (DSMA) are reported. One patient has the clinical picture of peroneal muscular atrophy with atrophic calves. His father and sister suffer from cramps and fasciculations of the calves with true neurogenic muscular hypertrophy of the calves. The electromyogram and the biopsy specimen are conclusive for motor neuron disease in this family. These findings suggest that the DSMA variant as described by D'Alessandro et al. (Arch. Neurol. (1982) 39: 657-660), concerning benign spinal muscular atrophy with hypertrophy of the calves, has to be considered as a mild manifestation of DSMA.

Adult↗
PubMed2003

A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.

Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific.

Chromatography, High Pressure Liquid↗
PubMed1981

Diaphragm paralysis and ventilatory failure in chronic proximal spinal muscular atrophy.

Ventilatory failure occurred in a patient suffering from proximal neurogenic muscular atrophy resembling the adult form of Kugelberg-Welander syndrome. Diaphragmatic paralysis was diagnosed when patient was found to be unable to generate a transdiaphragmatic pressure difference on deep inspiration. Post-mortem examination revealed nearly complete replacement of the diaphragm by fat and fibrous tissue. Although uncommonly reported in the medical literature, ventilatory failure secondary to diaphragm dysfunction should be added to the list of complications encountered in the clinical setting of chronic proximal spinal muscular atrophy.

Adult↗
PubMed1994

[Juvenile muscular atrophy of the bilateral upper limbs associated with peculiar transformation of the dural tube induced by neck flexion].

We described an 18-year-old man with slowly progressive muscular atrophy in upper limbs on both sides. Regarding muscular atrophy, sensory disturbances in both palms were disproportionally very mild. Electrophysiological study suggested involvement of anterior horn restricted to the cervical cord, which resembled juvenile muscular atrophy of unilateral upper limb (Hirayama's disease). This patient, however, was unique in that the atrophy was bilateral and wider distribution of a lesion from C5 to T1 segments unlike Hirayama's disease. Neuroradiological findings in neutral position of the neck showed no abnormalities, but in flexion there was a characteristic change of the cervical cord and the posterior wall of dural canal. On myelography in flexion, anterior-posterior diameter of the middle and lower cervical dural canal decreased presumably due to an anterior shift of the dorsal part of dura mater. CT-myelography in neck flexion showed characteristic folding of the dorsal part of dura mater whose median portion seemed to intrude anteriorly and consequently concave the spinal cord. Anterior shift of the dorsal part of dura mater is known to occur in Hirayama's disease, but the folding is a peculiar finding in this patient. After laminectomy and laminoplasty of vertebrae from C3 to C7, his symptoms improved a little. On palpating the dorsal surface of dural canal, its median portion was harder than the lateral portion. A small fraction of the dura mater which was removed from hard median portion was thick, but showed no histological abnormalities. In normal functioning anatomy the dural canal is lengthened more posteriorly than anteriorly with neck flexion.(ABSTRACT TRUNCATED AT 250 WORDS)

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↗
PubMed1993

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A single locus for these disorders has been mapped by recombination events to a region of 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification to screen yeast artificial chromosome (YAC) DNA pools and the PCR-vectorette method to amplify YAC ends, a YAC contig was constructed across the disease gene region. Nine walk steps identified 32 YACs, including a minimum of seven overlapping YAC clones (average size, 460 kb) that span the SMA region. The contig is characterized by a collection of 30 YAC-end sequence tag sites together with seven genetic markers. The entire YAC contig spans a minimum of 3.2 Mb; the SMA locus is confined to roughly half of this region. Microsatellite markers generated along the YAC contig segregate with the SMA locus in all families where the flanking markers (D5S435 and MAP1B) recombine. Construction of a YAC contig across the disease gene region is an essential step in isolation of the SMA-encoding gene.

Base Sequence↗
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↗
PubMed1993

Intramedullary astrocytoma presenting as spinal muscular atrophy.

We present a 6-year-old patient with a spinal cord tumor who had been followed with the diagnosis of spinal muscular atrophy since the age of 23 months. Reasons for reevaluating the diagnosis of spinal muscular atrophy were the early onset of scoliosis, the slight asymmetry in weakness of extremities, and the appearance of urinary retention in the last 3 days. Magnetic resonance imaging revealed a very long, intramedullary tumor extending from the level of the seventh cervical segment to the conus medullaris, later reported to be a grade I astrocytoma. We therefore recommend that magnetic resonance imaging, a noninvasive and sensitive technique for intraspinal pathologies, be performed in every patient with an atypical form of spinal muscular atrophy.

Age of Onset↗