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Pathology of the muscular dystrophies and the congenital nonprogressive myopathies.
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[Clinical and myopathological studies on rigid spine syndrome].
Rigid spine syndrome (RSS) is thought to be a group of heterogeneous muscle disorders. We reviewed the clinical and myopathologic findings of 55 patients with RSS including 49 previously reported and our own 6 patients. The results were as follows: the first, 80% showed restrictive ventilatory failure and 40% atrophy of the sternocleidomastoid muscle (SCM), which became manifest in the early stage of the illness, namely in less than 5 years from the onset. The second, paraspinal muscles usually began to be involved from the cervical semispinal muscle extending to other paraspinal muscles such as the more laterally located splenium muscle. The third, muscle biopsy demonstrated rimmed vacuoles (RV) in 41% of the 55 patients. RV were more frequently seen in the paraspinal muscles than the limb muscles, where marked myopathic changes of endomysial fibrosis and increased variation of the muscle fiber size were recognized. Based on the anatomical analysis of the paraspinal muscles, alligator sign, a radiological finding of the posterior opening between the cervical spine C1 and C2, seemed to result from the shortening of the cervical semispinal muscle due to its degeneration. This sign may, however, disappear as the whole paraspinal muscles including the semispinal muscles are affected. The RV seen in RSS seems to be a secondary, nonspecific structure related to the muscle degeneration. On the other hand, the above findings, namely the atrophy of SCM, restrictive ventilatory failure, and RV, have not been reported in Emery-Dreifuss muscular dystrophy (EDMD) so far. Accordingly, those findings and the absence of cardiac conduction abnormality are valuable for differential diagnosis of RSS from EDMD.
[Myogenous syndrome. Diagnostic orientation].
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Clinically insignificant (natural) autoantibodies against acetyl cholinesterase in the sera of patients with a variety of neurologic, muscular and autoimmune diseases.
Acetyl cholinesterase (AChE) antibodies were shown to be associated with myasthenia-like neuromuscular disease. However, it is not clear whether they cause the disease, or their presence is secondary to the disease or an unrelated epiphenomenon. Therefore, AChE antibodies were studied in the sera of 135 patients with neurologic, muscular and autoimmune diseases, using enzyme linked immunosorbent assay (ELISA), immunoblotting and enzyme inhibition assay. In 12 sera the AChE binding by ELISA was greater than 2 standard deviations (SDs) above the mean value of the 20 healthy controls. However, this increased binding was not disease-specific, had no clinical correlates and could not be demonstrated using Western blotting and AChE enzyme inhibition assay, suggesting that these antibodies are naturally occurring, pathogenically unimportant autoantibodies. The finding also supports a possible pathogenic role for the previously reported, high titer, high affinity, inhibitory AChE antibodies in the neuromuscular disease.
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism.
In 1981 a report appeared of a patient with Duchenne muscular dystrophy associated with dwarfism caused by growth hormone deficiency, in whom the muscular disease was unusually benign. The authors suggested that the benign course might be related to the growth hormone deficiency and dwarfism. Other authors later supported this idea, having observed that in dystrophic mice and hamsters with congenital and experimentally induced pituitary dwarfism, respectively, pathological expressions of the dystrophy were markedly reduced. In this paper one case of Becker and one of limb-girdle dystrophy, each associated with short stature and growth hormone deficiency are described. In these cases the disease did not have a particularly benign course. It is concluded that caution is necessary, at least in certain cases, before an association between reduced muscular growth and the dystrophic process can be assumed.
Myopathy of the Proteus syndrome: hypothesis of muscular dysgenesis.
The Proteus syndrome is a congenital disorder of growth regulation affecting tissues of mesodermal and ectodermal origin. It is expressed as hemihypertrophy, hemimegalencephaly, muscular overgrowth, verrucous epidermal nevi, haemangiomas and bony dysplasias. Muscle biopsies were examined at 7 and 10 yr of age from a girl with this disease. Several cytoarchitectural alterations of myofibres, proliferation of sarcolemmal nuclei, and other myopathic changes were demonstrated in regions adjacent to other with normal myofibres; the boundaries did not correspond to fascicular margins. A perinuclear and subsarcolemmal distribution of excessive desmin was also found. It is suggested that this myopathy represents a new category of neuromuscular disease, "muscular dysgenesis", due to faulty paracrine growth factors.
Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.
A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the appearance of clinical signs of the muscular disease by many years and persisted even after treatment when the blood gas analysis values were greatly improved. During both diurnal and nocturnal sleep, the patient frequently fell asleep directly into a REM stage. The possibility is discussed that, concomitant with the respiratory musculature involvement, there is an alteration in the central nervous system in myotonic dystrophy which is at least partially responsible for both the alveolar hypoventilation and the hypersomnia.
Chromosomal localization of the mouse titin gene and its relation to "muscular dystrophy with myositis" and nebulin genes on chromosome 2.
In the mouse, the genes for the structural components of the myofibril titin and nebulin, Ttn and Neb, map to proximal Chr 2, as does the gene for a muscle disease, "muscular dystrophy with myositis," mdm. To facilitate the evaluation of Ttn and Neb as possible candidates for mdm, we have determined their relative map positions, using a Mus spretus/Mus musculus interspecific backcross. The gene order (distances in cM) cenVim-16.9 +/- 4.7-Neb-7.6 +/- 3.0-Ttn, Acra-18.0 +/- 4.9-Pax-6-17.7 +/- 4.9-a ... has been determined. Considering the standard deviations, Neb, Ttn, and Acra could colocalize with mdm. Using Ttn and Neb probes, DNAs from mdm/mdm and mdm/+ mice were tested for restriction fragment variants in comparison to the M. musculus wildtype. No variants have been found with 11 restriction nucleases. Our data corroborate a conserved synteny comprising genes NEB, TTN, CHRNA1 on human Chr 2q.
Quadriceps myopathy: report of a late onset sporadic case.
The Authors describe the case of a 44 year-old man whose familial and personal histories were negative for muscular diseases. The patient complained slowly progressive wasting and weakness localized to the quadriceps muscles. The bioptic study of the gastrocnemius and the quadriceps showed dystrophic changes, confirming that muscular dystrophy closely localized to quadriceps is of rare occurrence. Muscles other than quadriceps can often be involved by the same pathology even if the clinical signs continue to be localized to the quadriceps muscles for many years.
[A newborn child with Werdnig-Hoffmann's disease (infantile spinal muscular atrophy)].
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A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions.
Clinical and morphological findings in five patients, three girls and two boys, afflicted with congenital muscular dystrophy (CMD) and cerebral lesions are reported. Four of these patients represented two pairs of siblings, and all patients had died in early infancy. Three of the patients had muscle hypotonia in early infancy, two siblings died with a necrotizing myopathy before neuromuscular symptoms became clinically apparent. Two siblings had intractable grand mal seizures, one other boy had polymicrogyria, and a single child had internal hydrocephalus. Muscle morphology in all patients was compatible with CMD, showing a necrotizing component in two male sibs. Electron microscopy of muscle only revealed non-specific ultrapathology. The association of CMD with cerebral lesions renders prognosis unfavourable. The data presented do not permit the delineation of a precise nosological form of cerebro-muscular disease but may comprise several entities. The association of CMD and cerebral lesions may often occur in families, apparently following an autosomal-recessive mode of inheritance. It may not be identical to the Fukuyama type of CMD, and it is definitely different from the "muscle, eye and brain disease" in Finnish children. It seems to be similar to CMD with cerebral lesions observed in non-Japanese siblings, but whether it is actually the same disease remains unclear. At least the association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.
[Neuromuscular interactions--tendencies toward a biochemical-genetic analysis].
The analysis of hereditary neuro-muscular diseases in the mouse and in other vertebrates may contribute to our understanding of the developmental interactions between spinal cord and sceletal muscle. Meaningful biochemical analysis must be preceded by "biological mixing experiments" to demonstrate whether a given mutation is cell-autonomous, and, if so, which cell type caries the primary defect. Techniques are available to carry out the critical experiment in vivo (artificial chimaeras) or in culture.
Anaesthetic considerations in patients with muscular dystrophy undergoing spinal fusion and Harrington rod insertion.
Charts of nine patients with Duchenne and one with Becker's muscular dystrophy who had undergone spinal fusion and Harrington rod insertion for scoliosis were reviewed retrospectively. The mean age was 15 years and mean angle of scoliosis was 69 degrees. Preoperative pulmonary function studies showed a restrictive defect with a mean vital capacity of 1.3 +/- 0.69 litres, 35 +/- 20 per cent of predicted value, 33 +/- 20 ml . kg-1 and a mean inspiratory capacity of 0.99 +/- 0.5 litres, 23 +/- 13 ml . kg-1. There were no anaesthetic complications during operation and obstructive cardiomyopathy, hyperpyrexia, hyperkalaemia and rhabdomyolysis were not problems. Succinylcholine was avoided. One patient developed an arrhythmia postoperatively and one patient whose postoperative problems included tracheostomy, pneumonia and sepsis could not be weaned from the ventilator and died 11 weeks after operation. As assessing risk and survival of the operation depends on objective pulmonary function, a vital capacity of at least 20 ml . kg-1 in the range of 30 per cent of predicted volume with an inspiratory capacity of at least 15 ml . kg-1 would appear to be adequate in patients with muscular dystrophy requiring Harrington rod insertion. Other factors including the rapidity of progression of the muscular disease, other respiratory and cardiovascular problems, and disease such as obesity should also be considered.
Benign congenital myopathy. A cause for mild, nonprogressive or slowly progressive muscle weakness.
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A neutral thiol proteinase in normal and dystrophic human muscle.
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A fluorescent spot test for creatine kinase.
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Incidence of acetylcholinesterase in the sarcoplasm of human and chicken muscles.
Fifty-nine biopsies of human muscle, 53 of them abnormal, 6 normal, were studied for the histochemical localization of acetylcholinesterase (AChE) using frozen sections and light microscopy. In addition to AChE which was found at the myoneural and myotendon junction, specific staining was found around the periphery of many fibers from normal and abnormal muscles. Moreover, AChE activity was found to be high in the sarcoplasm of more than 10% of the fibers from 28 biopsies of abnormal muscle including cases of hemiplegia, spinal cord injury, denervation and neuropathy, infantile spinal muscle atrophy, Duchenne, limb-girdle and facioscapulohumeral dystrophies, Schwartz-Jampel syndrome and a myasthenic syndrome. Of the muscles from experimental animals examined, only the Rhesus monkey exhibited AChE around the periphery of the fibers, and only the dystrophic chicken and not the dystrophic mouse or hamster, showed extensive sarcoplasmic AChE. Histograms of muscle fiber diameters indicated that AChE in the sarcoplasm was associated with fibers of all sizes, depending on the nature of the disorder examined. Fibers containing AChE were smaller than unstained fibers in dystrophic chicken muscle. The results suggest that in the human, sarcoplasmic AChE is reversibly repressed during muscle maturation and that its mode of regulation by motor neurons is similar to that found in the chicken.