摘要:

AbstractThe infantile form of spinal muscular atrophy (Werdnig‐Hoffmann disease) is thought to be progressive and usually fatal by age three. The intermediate and juvenile forms (Kugelberg‐Welander disease) have been reported to be static in many cases. A review of 48 patients, 50% of whom had been followed for more than 10 years, were placed into four groups according to the maximum motor function attained. Progression of muscle weakness was assessed using functional criteria, including inability to walk, inability to use a manual wheelchair and inability to raise the hands above the head. The results of this analysis suggest that all patients with spinal muscular atrophy have a progressive disease and that the course of the deterioration is predictable in each of the four groups. This information allows one to offer realistic counseling and a rational rehabilitation prog

ISSN:0148-639X    

DOI:10.1002/mus.880060302

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThree patients with Hypokalemic Periodic Paralysis (HOPP)‐associated progressive interattack muscle weakness, who became unresponsive or worsened by acetazolamide, responded favorably to dichloro‐phenamide, a more potent carbonic anhydrase inhibitor. Dichloro‐phenamide in single‐blind placebo‐controlled trials, considerably improved functional strength in two of the patients and had a moderate but definite effect in the third. Muscle groups graded 4/5 (MRC scale) returned to normal; very weak (0–3/5) atrophic muscles, improved to a minor degree. In one patient with acetazolamide‐resistant paralytic attacks, dichlorophenamide also diminished the frequency and severity of the acute attacks. Dichlorophenamide had, in the present study, less effect than acetazolamide in reducing serum HCO 3−and elevating Cl−. Its effectiveness may be related to the degree of sensitivity of certain HOPP patients to alterations of Cl−and/or HCO 3−serum levels or to a different action of the drug unrelated to carbonic anhydrase inhibition or acidosis. Dichlorophenamide should be considered as an alternate to acetazolamide in the treatment of patients with HOPP‐associated interattack muscle weakness who have become unresponsive o

ISSN:0148-639X    

DOI:10.1002/mus.880060303

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThe properties of skeletal muscle lysosomes from normal and dystrophic chickens were studied to assess their involvement in the dystrophic process. A method is described for isolation of a three‐to‐sevenfold purified lysosome fraction with 29–33% yield. Lysosomal enzymes in crude homogenates and isolated lysosome‐enriched fractions from dystrophic muscle exhibit decreased latency forN‐acetyl β‐D‐glucosaminidase, acid phosphatase, and cathepsin D. However, no differences in the fragility of lysosomes in isolated lysosome‐enriched fractions from normal and dystrophic muscle were observed using shear, sonication and detergent stress. Lower percent recovery, enrichment factor and percent latency of acid phosphatase compared toN‐acetyl‐β‐D‐glucosaminidase and cathepsin D were observed from both normal and dystrophic muscle. These results are consistent with the presence of a significant amount of nonlysosomal acid phosphatase ac

ISSN:0148-639X    

DOI:10.1002/mus.880060304

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractSubsequent to an earlier report on clinical and light microscopic data, peculiar Mallory body‐like inclusions are described in muscle fibers of three genetically linked children. These Mallory body‐like inclusions were unlike other well‐defined intramuscular inclusions, such as nemaline, cytoplasmic, fingerprint, or sarcoplasmic bodies, but morphologically quite similar to hepatic Mallory bodies, because they were composed of three components: granular material and two types of filaments. Evidence is presented that these inclusions may contain desmin, the intermediate filament type characteristic of muscle. The exclusive appearance of these Mallory body‐like inclusions in muscle biopsy specimens from theree genetically related children of a large kinship emphasizes the uniqueness of these Mallory body‐like inclusions in these muscle fibers as well as the special form of this congenital neuromuscular

ISSN:0148-639X    

DOI:10.1002/mus.880060305

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractA patient with progressive involvement of respiratory function from adult‐onset acid maltase deficiency is reported. The decrement in objective and subjective waking and sleeping respiratory variables was significantly reversed by inspiratory muscle training. This training was accomplished simply by breathing against inspiratory resistors for 15 minutes twice a day. Inspiratory muscle training may prove valuable in other patients with progressive neuromuscular disorders that involve respiratory muscle functio

ISSN:0148-639X    

DOI:10.1002/mus.880060306

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractForearm exercise in a patient with myophosphorylase deficiency resulted in abnormally high levels of hypoxanthine in the venous blood. The post‐exercise hypoxanthine response may reflect ATP depletion in the muscle and provides a useful screening test in muscle diseases with abnormal energy metabolis

ISSN:0148-639X    

DOI:10.1002/mus.880060307

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractThis paper presents an ultrastructural study of the changes occurring within the tendon and at the insertion of the developing gastrocnemius of White Leghorn chickens and the dystrophic lines 413 and 423 from Davis, CA. The study revealed that the Davis lines contained abnormalities in these areas as early as 13 din ovowith progressive deterioration to 19 din ovo. The fibroblasts, collagen, and myofibers showed significant alterations as early as 13in ovo. Fibroblasts contained abnormal mitochondria and altered Golgi bodies. At day 19, many were ruptured. The average diameter of collagen fibrils was smaller in the dystrophic chickens and myofibers showed a variety of alterations, some of which were severe. The details of these alterations are described and their possible relationship with the etiology of genetic muscular dystrophy is discussed.

ISSN:0148-639X    

DOI:10.1002/mus.880060308

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractDystrophic changes of Schwann cells and demyelination occurred in rats with chronic nerve edema induced by feeding a galactose‐rich diet for two years. The mechanism for edema is the sorbitol pathway which generates osmotically active polyols from galactose or glucose. The blood‐nerve barrier impedes diffusion of macromolecules from peripheral nerves, and endoneurial fluid pressure (EFP) becomes elevated. After 24–26 months of feeding with 40% galactose diet, myelinated nerve fibers showed segmental demyelination with bubbly disintegration of myelin sheaths, axonal degeneration, and remyelination. These pathologic changes were significantly more common than similar abnormalities in age‐matched controls. Massive glycogen accumulation in Schwann cells, a unique morphologic finding, appeared only in experimental rats. Since edema and increased EFP are the earliest pathologic changes and are present for months before demonstrable nerve fiber injury, we suggest that they are responsible for the changes of myelinated fibers in chronic galactose neu

ISSN:0148-639X    

DOI:10.1002/mus.880060309

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

摘要:

AbstractReport of a 19‐year‐old man who was admitted to the hospital after vigorous exercise with signs of the “acute abdomen” syndrome. Since intestinal reasons for the complaints were excluded, a myocardial infarction was considered. However, the excessively increased serum CK levels indicated a disorder of the voluntary muscles. A biopsy taken from the rectus abdominis revealed typical features of acture rhabdomyolysis, which was obviously restricted to the rectus abdominis. Together with a somewhat later observed autopsy case of a young male with acute abdominal rhabdomyolysis, also restricted to the rectus abdominis, this case gives rise to discuss, whether there exists a “rectus abdominis syndrome” analogous to the anterior tibi

ISSN:0148-639X    

DOI:10.1002/mus.880060310

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY

ISSN:0148-639X    

DOI:10.1002/mus.880060311

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1983

数据来源: WILEY