[Orthopedic treatment of progressive muscular dystrophy and progressive neural muscular atrophy].
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Humans↗
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[Electromyogram (EMG) and muscle biopsy in patients with chronic spinal muscular atrophy].
The clinicopathological changes were investigated by electromyogram (EMG) and muscle biopsy in 30 cases of chronic spinal muscular atrophy. The results showed that the denervating changes were demonstrated in EMG in all patients but two. The light microscope discovered manifestation of neurogenic atrophy, and the electron microscope revealed a reduction of myofibrils, thickening and wavy appearance of Z-lines and dilation of mitochondria and endoplasmic reticula.
Adolescent↗
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos.
Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness with onset predominantly in infancy and childhood. With an estimated heterozygote frequency of 1/40 it is the most common monogenic disorder lethal to infants; milder forms represent the second most common pediatric neuromuscular disorder. Two candidate genes-survival motor neuron (SMN) and neuronal apoptosis inhibitory protein have been identified on chromosome 5q13 by positional cloning. However, the functional impact of these genes and the mechanism leading to a degeneration of motor neurons remain to be defined. To analyze the role of the SMN gene product in vivo we generated SMN-deficient mice. In contrast to the human genome, which contains two copies, the mouse genome contains only one SMN gene. Mice with homozygous SMN disruption display massive cell death during early embryonic development, indicating that the SMN gene product is necessary for cellular survival and function.
Amino Acid Sequence↗
No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers.
Two recent articles have reported the linkage of a gene for recessive spinal muscular atrophy (SMA) on the chromosome region 5q11.2-13.3. Our data show no linkage of the dominantly inherited forms of SMA to this chromosome region.
Chromosome Mapping↗
[Familial spinal muscular atrophy of the Kugelberg-Welander type].
The patients was a 16-year old girl with the spinal muscular atrophy. Clinical laboratory and genetic investigations were performed. A close relative of the proband suffering from the same ailment was found in analysing the genealogic tree. Enzymatic study (creatine phosphokinase, lactic dehydrogenase) of the proband and her parents proved the autosome-recessive type of inheriting the disorder.
Adolescent↗
Characteristics of early-onset, rapidly progressive scoliosis in spinal muscular atrophy type I treated with disease-modifying therapy -a multicenter retrospective study conducted in Japan.
In the era of disease-modifying therapy (DMT), almost all patients with spinal muscular atrophy (SMA) type I treated after onset, but before 6 months of age, develop early-onset, rapidly progressive scoliosis by 2 years of age, despite improvements in their motor function. Seven symptomatic patients with SMA type I who were treated before the age of 6 months were included in this retrospective observational study. Scoliosis had developed in all patients by 27 months of age. Among them, the patients who could stand with support or independently (standing patients; n = 3) tended to present with more progressive scoliosis than the sitters (n = 4). All standing patients demonstrated thoracic hyperkyphosis before or at the time of their scoliosis diagnosis. Despite receiving DMT, these patients continued to show residual key manifestations of SMA type I. Chronic difficulty maintaining posture due to trunk muscle weakness in the lying, sitting, or standing position was considered to be the main contributor to the development and progression of the scoliosis. The development and progression of such scoliosis, which begins in infancy, may be related to inappropriate postural management, which is not currently recognized as such by clinicians, caregivers, or guardians. In this population, it is important to closely monitor patients for such scoliosis from soon after the diagnosis of SMA. As this type of scoliosis progresses rapidly during the early developmental stage, when surgery is not possible, it is necessary to establish a proactive non-surgical management strategy for it.
Humans↗
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications.
We analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available for analysis, were in agreement with chromosome 5q linkage. The patients were classified according to the motor development into SMA I (never sat), SMA II (sitting without support), and SMA III (walking without aids). Three sibs with adult onset (> 30 years = SMA IV) were discussed as a separate entity. Age-of-onset of the 101 patients showed a wide spectrum (prenatal to 47 years). Among sib pairs with SMA I and SMA II the ages-of-onset appeared to be very similar except of one atypically discordant sib pair. With regard to SMA III, 3 out of 13 sibships (23%) showed a marked variation in age-of-onset ranging from 5-15 years within a family. Concerning acquired motor development (ability to sit and walk), 7 sibships (15%) belonged to different SMA types. Ages of death in 29 sib pairs in whom at least one sib had died before the age of 20 years were strikingly discordant. Neither the degree of disability nor the respiratory deficits are reliable predictors of life expectancy. Although a predominance of males can be observed, no significant effect of gender has been established in familial cases. The existence of multiple allelism seems to be the most suitable explanation for the high interfamilial variability considering the clinical concordance in most affected sib pairs.
Adolescent↗
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.
Adult↗
Congenital cervical spinal muscular atrophy: a non-familial, non progressive condition of the upper limbs.
Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurogenic type of arthrogryposis, limited to the upper limbs.
Adult↗
X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases.
Two cases of X-linked bulbo-spinal muscular atrophy and one sporadic case with the same clinical features are presented. All three cases were extensively studied by electrophysiological methods. One of the patients showed some transient weakness, which was partly improved by pyridostigmin. In this patient the Decrement test and jitter revealed a mild degree of motor-end plate dysfunction. Clinical and electrophysiological findings obtained from all three patients suggest that in Kennedy syndrome cell bodies of group IA muscle afferents are also affected selectively, with other peripheral afferents.
Electromyography↗
Pilot trial of albuterol in spinal muscular atrophy.
The aim of this pilot study was to evaluate the effect of albuterol in children with spinal muscular atrophy (SMA). Thirteen patients (five with SMA II and eight with SMA III) were given oral albuterol for 6 months. There was a significant increase in myometry, forced vital capacity, and lean body mass between the baseline and the 6-month assessments (p < 0.05). Albuterol may have a beneficial effect in patients with SMA without causing any significant adverse effects. Larger randomized, placebo-controlled trials are needed to confirm this observation.
Absorptiometry, Photon↗
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.
Segregation analysis was performed on 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence (CPSMA) in the total series and in a number of subgroups formed according to the age at onset and sex. The analysis provided evidence of sex influence in the series studied, particularly in a subgroup of the milder form of the disease with onset between the 37th month and 18th year of life. In the latter subgroup, females were affected much less frequently. This was particularly striking after age at onset of 8 years, and only exceptionally were females affected after the age of 13 years. These facts point to incomplete penetrance of the gene.
Adolescent↗
Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy.
Magnetic resonance imaging (MRI) of cervical spine was performed in 16 patients of juvenile asymmetric segmental spinal muscular atrophy (JASSMA) in neutral and flexed positions to look for abnormalities in the spinal cord and the surrounding structures. The study included 5 normal individuals and 5 disease-negative controls who had spinal cord atrophy due to amyotrophic lateral sclerosis. In normal and disease-negative controls, lower cervical spinal cord moved forward and got mildly flattened against the vertebral bodies during flexion. The subarachnoid space increased behind the cord with no significant forward movement of the posterior dura mater; epidural space was just visible. The patients of JASSMA showed spinal cord atrophy in a small vertical segment in front of cervical 4 to 7 vertebral bodies. In addition, 9 patients had high cord signal on T2 weighted images, mainly localized to anterior and lateral horns of the grey matter. In flexion, there was marked anterior displacement and anteroposterior flattening of lower cervical cord against the vertebral bodies; posterior dura mater also moved forward obliterating subarachnoid space in all the patients. A large posterior epidural space was visible which showed enhancement after gadolinium-DTPA administration. Twelve patients had prominent blood vessels in this epidural space. These findings suggest that MRI done in neck flexion may have diagnostic significance in JASSMA.
Adult↗
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↗
[Essential cryoglobulinemic vasculitis with severe peripheral neuropathy and neurogenic muscular atrophy -- inducing remission by cascade filtration].
We report on a 60 year old patient with peripheral neuropathy, neurogenic muscular atrophy, skin ulcers, arthritis and weakness. Detection of cryoglobulins in association with typical clinical symptoms, exclusion of hepatitis C and any other disease led to a rare diagnosis: essential cryoglobulinemic vasculitis. The case demonstrates not only the difficult diagnostic process but also the problems of an adequate and effective therapy. Since the usual immunosuppressive treatments such as methotrexate, high dose corticosteroid and intermittent intravenous pulse cyclophosphamide therapy (Austin's scheme) failed, we performed plasmapheresis (cascade filtration), which brought about an immediate and long-term remission. Besides discussing various types of plasmapheresis procedures and potential pathophysiological mechanisms, we point out that this therapy could find an early use in severe essential cryoglobulinemic vasculitis because of its excellent risk/benefit ratio.
Antibodies, Antinuclear↗
Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): an electrophysiological study.
Electrophysiological findings were studied in a family with spino-bulbar muscular atrophy (SBMA): the subjects were three male patients aged 58, 38 and 34 years and two female carriers aged 63 and 28 years. Diagnosis was proven at the molecular genetic level. Electromyography in the males showed spontaneous activity and neurogenic reorganization of the motor unit; motor nerve conduction was normal. Sensory action potentials were variably reduced in amplitude, but some were completely normal. Somatosensory evoked potentials, from both the upper and lower limbs, were invariably abnormal because involvement of the central pathways was observed. These findings are in agreement with histological investigations documenting lesions in the posterior columns. Brain-stem acoustic evoked potentials showed an increase in wave I latency. The electrophysiological data provide further evidence of the extent of sensory damage either in the central or the peripheral nervous system in SBMA patients, who otherwise have a constant clinical presentation of progressive motor neuron disease.
Adult↗
[Excitability of cervical lower motoneuron in juvenile muscular atrophy of the distal upper limb].
We investigated excitability of cervical lower motoneurons in 18 patients with juvenile muscular atrophy of the distal upper limb (Hirayama's disease), by F wave analysis and electrophysiological estimation of the number of motor units in the abductor pollicis brevis muscles of the affected side. In all the 18 patients, F wave persistencies and numbers of motor units were decreased, whereas amplitudes of single motor unit potentials were increased, compared to those of age-matched normal controls. Patients in a progressive phase showed markedly decreased F wave persistencies, overwhelming the degree of decreases in numbers of motor units. In half of them, F waves were significantly increased in number during neck flexion. On the other hand, patients treated with neck brace and patients having stabilized symptoms with longer duration showed F wave persistence reduction corresponded to the degree of the motor unit loss, and no changes in F wave persistencies in a posture of neck flexion. These results suggest that the disorder is characterized by decreased excitabilities of survived cervical anterior horn cells, as well as denervation and reinnervation, presumably resulting from local compression or circulatory failure by anterior shift of the posterior dural wall during neck flexion.
Adult↗
The mutation properties of spinal and bulbar muscular atrophy disease alleles.
We studied the gene for the trinucleotide repeat disorder X-linked spinal and bulbar muscular atrophy (SBMA) to quantify the spectrum of mutations and gain insight into genetic anticipation. This analysis was performed using single sperm typing from an affected individual. This method allows the quantification of large numbers of meioses and therefore provides accurate information about genetic instability of the CAG repeat expansions which cause SBMA. Among 198 X chromosome-containing sperm cells, 20% had a CAG repeat number equal to the donor's somatic DNA of 49 CAG repeats, 56% were expansions, and 24% contractions. Most of the expansions (84%) and contractions (94%) were between 1 and 3 CAG repeats. These results are consistent with those obtained from one previously studied SBMA patient and reveal greater CAG repeat instability in sperm than in somatic tissue. Our results indicate that in SBMA, in contrast to sperm typing analysis of Huntington's disease, there is relative stability of the CAG repeat number during paternal transmissions and that the spectrum of mutations is narrow. These results are in agreement with the limited available clinical data and suggest that anticipation may not be a significant feature of this disease.
Adult↗