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Results for “Muscular Disorders, Atrophic”

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PubMed1983

[Effect of peripheral nerve lesions on histochemical enzyme reaction patterns in skeletal muscle fibers].

Peripheral neuropathies are a heterogeneous group of disorders. Myopathological changes exist in motoric and senso-motoric neuropathies. Histochemical and morphometric investigations of muscle biopsies indicate characteristic features: The most common changes in denervation are atrophic fibres and fibre groups. Patients with simple peripheral neuropathy show a more diffuse atrophy of muscle fibres with characteristical signs of denervation such as small angular fibres. Reinnervation takes place in the chronic neuropathies. Type grouping is a feature of reinnervation. The pictures of chronic neuropathies show fibre atrophy, small angular fibres, type grouping, and sometimes target fibres or whorled fibres. The muscle fibre histograms are of myopathic or of neurogenic type.

Biopsy↗

PubMed2002

Motor evoked responses from the thigh muscles to the stimulation of the upper limb nerves in patients with late poliomyelitis.

OBJECTIVES: To demonstrate a clear-cut M response recorded from the severely affected thigh muscles to the stimulation of the upper limb nerves in a serial of patients with late poliomyelitis. METHODS: Fifteen patients with late poliomyelitis, 7 patients with spinal cord disorders and 11 control subjects were included. Evoked muscle responses were investigated in quadriceps femoris and/or thigh adductor muscles to the stimulation of the brachial plexus, median and ulnar nerves. RESULTS: Evoked muscle responses were obtained from the thigh muscles in all 12 late polio patients with proximal lower extremity involvement. The response could not be recorded from the thigh muscles neither in the 3 polio patients with upper extremity involvement nor in the healthy control subjects and in patients with other spinal cord disorders of anterior horn cell. CONCLUSIONS: It is proposed that the electrical stimulation of the arm nerves produce interlimb descending muscle responses in the severely affected atrophic thigh muscles of the patients with late polio. This finding suggests that there might be a focal and/or specific loss of inhibitory interneurons between injured and normal motor neurons and increased facilitatory synaptic action at the end of long propriospinal descending fibers in the case of late poliomyelitis.

Adult↗

PubMed1981

Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation.

Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. The striking finding in their muscle biopsies was the presence of "rimmed" vacuoles which had acid phosphatase-positive autophagic activity and which contained numerous concentric lamellar bodies in various forms (myeloid and cabbage bodies). Despite rapid clinical progression, not only necrotic fibers with phagocytosis, as seen in Duchenne dystrophy, but also evidence of regeneration were virtually absent. Continuous destruction of myofibrils by activation of certain lysosomal proteolytic enzymes might be responsible for the production of atrophic fibers.

Adult↗

PubMed1978

Necrotizing myopathy as a remote effect of gastric cancer accompanied with Hashimoto's thyroiditis.

An autopsy case of a 74-year-old male who had shown clinically hypothyroidism due to chronic atrophic thyroiditis (Hashimoto's thyroiditis), and pathologically necrotizing myopathy as a remote effect of gastric cancer was reported. Morphological features of this necrotizing myopathy was those of carcinomatous myopathy rather than those of hypothyroid or diabetic myopathy. As for the pathogenesis of the necrotizing myopathy (as a Group IV of polymyositis of Walton and Adams), the malignancy might have played an important role as a trigger of the secondary immunological abnormality upon a pre-existing longstranding immune disorder of Hashimoto's thyroiditis. Pseudomembranous colitis, which was thought to be related to antibiotics. (Lincomycin), was also briefly discussed.

Adenocarcinoma↗

PubMed1985

Lobulated fibers in neuromuscular diseases.

Lobulated fibers have been observed in biopsies of 13 patients with various neuromuscular disorders including limb-girdle muscular dystrophy (3), distal myopathy (2), scapuloperoneal muscular dystrophy (2), congenital myopathy, Kugelberg-Welander syndrome, hypothyroidism, steroid myopathy, osteomalacia and systemic lupus erythematosus (on steroids). In all cases there were fibers characterised by small subsarcolemmal triangular aggregates or more diffuse collections extending into the interior of the muscle fiber. These were strongly reactive with oxidative enzymes, acid phosphatase, periodic acid-Schiff (PAS), Verhoeff-van Gieson (VVG) and also stained red with the Gomori trichrome technique. In 5 cases core-like fibers were also seen. Morphometric analysis of the NADH-tetrazolium reductase (NADH-TR) preparations in 11 cases showed atrophy of the lobulated fibers. Ultrastructural studies of lobulated fibers disclosed large peripheral mitochondrial aggregates and focal areas with Z-line streaming and disrupted myofibrils. We consider this structural change of the muscle fiber as a reflection of muscle cell disruption and suggest that they may progress from lobulated fibers to more atrophic core-like fibers.

Adenosine Triphosphatases↗

PubMed1996

[Immunostaining of anti-Bcl-2 antibody in diseased human muscles].

Immunostaining of Bcl-2 protein which represses apoptosis was performed on 178 biopsied human pathologic muscles and 10 control muscles by the ABC method using two monoclonal anti-Bcl-2 antibodies. Bcl-2 in control muscles was positive mainly in nuclear membrane and cytoplasm in type 2 fibers (especially type 2B fibers), and negative in type 1 fibers. In myopathies, it was not expressed in type 2C (regenerating) fibers, and its expression in atrophic fibers such as forming pyknotic nuclear clumps was strong. In inflammatory myopathies, expression was observed in infiltrating lymphocytes, and especially in dermatomyositis in atrophic fibers facing perimysium. In mitochondrial myopathies, the positivity was observed only in type 2 ragged-red fibers. In muscles of neurogenic disorders, both small angulated fibers and atrophic grouped fibers were strongly positive. Western blot analysis using anti-Bcl-2 antibody showed a single band at 26 kDa in control and diseased skeletal muscles. Compared to immunostaining of Fas antigen in serial sections, both Bcl-2 and Fas were expressed in same atrophic fibers in distal myopathy with rimmed vacuoles. In myotonic dystrophy, they were often expressed in type 2 fibers containing internal nucleus. In carriers of Duchenne dystrophy, Fas-positive but Bcl-2 negative fibers were observed in same dystrophin-negative fibers. In conclusion, expression of Bcl-2 in skeletal muscles might suggest that Bcl-2 plays a role on surviving muscle fibers.

Apoptosis↗

PubMed1978

Spinal roots in Werdnig-Hoffmann disease.

The spinal nerve roots were studied in two siblings with Werdnig-Hoffmann disease (WHD). An invasion by fibrous astrocytes was consistently seen along the atrophic ventral roots, more extensively in the older sibling. The parallel glial processes extended in discrete bundles and were always enclosed by a basal lamina. Loss of unmyelinated axons and probable glial extension along unmyelinated fibers were also seen. The astrocytic processes with abundant microtubules and prominent junctional devices resembled those of the subpial region, which appeared to have gained access into the ventral roots following axonal degeneration. The present observations suggest that such glial migration, although apparently unique in WHD, is a secondary phenomenon and fails to resolve the issue as to whether neuronal degeneration or an injury to the nerve roots is the primary event in this disorder.

Astrocytes↗

PubMed2005

Benign infantile neurogenic muscle atrophy predominantly involving the upper extremities.

An eight year-old girl was first noted to be hypotonic at 4 months of age. She had a delay in achieving developmental milestones and showed apparent weakness predominantly affecting muscles of the upper extremities. In the left biceps brachii muscle biopsy at the age of 5 months, there were groups of atrophic fibers and marked fiber type grouping, but intramuscular nerves were well myelinated and there were few type 2C fibers. She improved with age and learned to walk at 1 year and 4 months and had minimal weakness of the forearm muscles and mild atrophy of the muscles of the right upper extremity. She recently developed a mild scoliosis. Since the EMG was not neurogenic and no mutations were found in the survival motor neuron (SMN) gene, we believe that she does not have a degenerative neurogenic disorder but rather has an abnormal innervation of the skeletal muscles due either to anterior horn cell dysgenesis or anomalous peripheral nerve branching.

Child↗

PubMed1989

Internalized myofiber capillaries: observations on their origin and clinical features.

Internalized capillaries limited to type 1 muscle fibers were noted in seven patients. They occurred in each case in association with a similar admixture of neurogenic and myopathic features that included atrophic and hypertrophic fibers, internal nuclei, fiber splitting, and endomyseal and perimyseal fibrosis. Internalized capillaries in enlarged type 1 fibers arose from fiber splits on step section study of four patients. They occurred in the gastrocnemius, quadriceps, and soleus muscles from patients with a variety of disorders that included Becker dystrophy, diabetes mellitus and strenuous leg activities, Achilles tendon rupture, and myotonic dystrophy. Exercise-induced myalgias were noted in the four patients with the most plentiful intramuscular capillaries, and in three of these muscle hypertrophy was present. The concurrence of internalized myofiber capillaries and exercise-induced myalgias may represent an associated biochemical/pathological defect.

Adolescent↗

PubMedDate not supplied

Immunolocalization of tenascin-C in human type II fiber atrophy.

Tenascin-C is a multifunctional extracellular matrix glycoprotein with stimulatory and anti-adhesive or inhibitory properties for axon growth. Its location and discontinuous expression are restricted in innervated muscle tissues. Tenascin-C accumulated interstitially among human denervated muscle fibers and close to normal-sized fibers. To expand our knowledge of the expression of tenascin-C in human neuromuscular disorders, we investigated immunohistologically 20 human muscle specimens with type II myofiber atrophy of children and adults. Tenascin-C immunoreactivity in adult type II atrophy was frequent, and accumulation in children was sparse and weak. In both groups, tenascin-C immunoreactivity was found: 1. Interstitially around normal-sized type II muscle fibers. 2. Around atrophic type II muscle fibers. 3. Around small-caliber myofibers with centrally located nuclei. These results indicate that tenascin-C immunoreactivity: (1) is detectable around early denervated and reinnervated muscle fibers and, therefore, (2) may reflect in part the molecularly ongoing process of denervation and reinnervation in human type II fiber atrophy.

Adult↗

PubMed1998

Classic and occult submucous cleft palates: a histopathologic analysis.

OBJECTIVE: Although classic and occult submucous clefts have been well described with respect to clinical features and endoscopic findings, there is a paucity of information regarding the histologic characteristics of the midline palatal area and its role in the clefting process. This preliminary study describes the histopathologic features of classic and occult submucosal clefts. DESIGN: Twenty-eight patients with classic submucous cleft (12 patients) and occult submucous cleft (16 patients) were available for study. Histopathologic evaluation of two biopsies from each patient (muscular uvulae biopsy; levator muscle bundle biopsy) was performed. RESULTS: Submucosal fibrosis with relatively dense collagen deposition was noted in both the musculus uvulae and levator muscle bundle biopsy sites. Individual myocytes and myocyte fascicles were entrapped and encased by fibrotic tissue, resulting in disruption of the fascicular organization. Most fascicles were disrupted by intervening dense collagen bands within and interposed between the fascicles. The myocytes had an atrophic or hypoplastic appearance with cross-sectional diameters ranging from 42% to 61% (mean reduction, 53%) less than those expected for myocytes from normal palates. There was fascicular disorganization with intermixing of longitudinally and cross-sectionally oriented myocyte groups. Minor salivary glands were affected as well with increased collagen deposition between and within lobules of salivary gland tissue. CONCLUSIONS: This histopathologic study indicates that significant fibrosis is present within submucosal cleft regions and is associated with myocyte atrophy or hypoplasia. The relatively dense fibrosis appears to be a well-organized, chronic process and is present in the absence of significant chronic inflammation. In addition, there is myocyte fascicular disorganization with a haphazard arrangement. This disorderly arrangement may imply that there is a failure of resorption of the epithelial/mesenchymal tissue during palatine shelf closure with retention of mesenchymal tissue that contains the insertion of the velopharyngeal musculature apparatus.

Atrophy↗

PubMedDate not supplied

Immune-mediated neuropathy and myopathy in post-streptococcal disease: electron-microscopical, morphometrical and immunohistochemical studies.

A 22-year-old man suffered from a complete flaccid tetraparesis and an immune complex-mediated rapid progressive glomerulonephritis after group A streptococcal infection. Serum creatine kinase was excessively elevated and myoglobinuria occurred. Nerve conduction studies revealed evidence of axonal neuropathy. Recovery was satisfactory within 18 months. Sural nerve and peroneus muscle biopsies were performed in the 4th and 14th week of the disease. Light microscopy of the sural nerve showed an incipient axonal type of neuropathy in the first biopsy. Ultrastructurally, Wallerian degeneration and endoneurial inflammatory cells were present. In the muscle biopsy, few atrophic fibers and altered blood vessels without further anomalies were found. In the second sural nerve biopsy, macrophages were numerous, some of which were immunoreactive for HLA-DR, and only a few myelinated and some unmyelinated nerve fibers remained. Muscle fibers in the second biopsy showed high-grade atrophy and myofibrillar abnormalities. Immunohistochemistry revealed diffuse endoneurial immunoglobulin deposition in the first sample, while in the later biopsy specimen, deposits of IgG, and kappa and lambda light chains were visible in circumscribed endoneurial areas. Immune-mediated neuropathy and myopathy are not well-known complications of streptococcal disease. This is, to our knowledge, the first detailed report on morphological findings in muscle and nerve in such a disorder.

Adult↗

PubMed1986

[Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].

We report the case of a young patient who presented with dysmorphism, bullous eruption of childhood, cutaneous and muscular atrophy and hyperpigmentation. Attempts were made to find out where this case fits in the nosological framework. This young boy without any particular family history was born with facial dysmorphism consisting of micrognathia, right microphtalmos, gothic palate and left facial palsy of the peripheral type. At the age of 2 years and 9 months, generalized fragility of the skin appeared in the form of a recurrent bullous eruption. The bullae left numerous atrophic and depigmented scars; they spared the mucosae, and there was no photosensitivity. At the same time, generalized skin atrophy developed: the subcutaneous venous network was abnormally visible and there was diffuse hyperpigmentation. The hair was fine, curly and thin. The teeth dystrophic and abnormally positioned. The cornea of the right eye was invaded by conjunctiva. The bullous eruption subsided when the child was about 6 years' old, but the skin atrophy became worse and was accompanied with amyotrophy of the limbs and retraction in flexion of the joints at the extremities. Chronic ulcerations were present on the lower limbs. Statural and ponderal growth, as well as mental development were normal. The biochemical examinations performed revealed no abnormality. Light and electron microscopy of the skin showed a normal dermis-epidermis junction, but the anchorage fibres were rarefied. The dermal connective tissue was abnormal, with thin collagen fibres and disorganized fibrillae. Fibroblasts were hypoplastic and numerous. The elastic network was meagre and elastic fibres had a slashed appearance. Biopsy of a palmar nodule showed cheloid-like lesions. The nosological discussion involved some congenital bullous diseases and certain forms of connective tissue dystrophia. Among the bullous diseases, congenital poikiloderma, as described by Weary and Kindler, is unaccompanied with amyotrophy, articular retraction or dysmorphism. According to Verret et al., the bulla is located at the dermis-epidermis junction. Recessive dystrophic epidermolysis bullosa seems to differ from our case in that skin atrophy is localized and amyotrophy, dysmorphism and disorders of pigmentation are absent. In addition, we found no histological evidence of collagenolysis. Mendes Da Costa's bullous dystrophy can be excluded, as there was no nanism, microcephaly or diffuse alopecia in our patient. Among connective tissue dystrophias, acrogeria Ehlers-Danlos type IV syndrome does not include bullous eruption, amyotrophy or articular retraction.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗

PubMed1996

Sporadic early adult-onset distal myopathy with rimmed vacuoles: immunohistochemistry and electron microscopy.

We report the histoenzymology, immunohistochemistry and electron microscopy of the tibialis anterior muscle of a 50-year-old male patient affected by a sporadic distal myopathy with onset during adolescence. There was no family history of muscle disorder and no clinical signs of cardiomyopathy. Extremely large variations in muscle fibre diameter (the size of some fibres exceeding 200-250 microns), rimmed vacuoles, necrotic fibres invaded by macrophages, atrophic fibres and perimysial fibrosis were observed. Using a wide range of antibodies raised against membrane- and cytoskeletal muscle proteins, granular desmin immunoreactivity was observed in muscle fibre lesions. There were no inflammatory parameters. Of special interest was the occurrence of autophagic vacuoles without 18-20 nm thick sarcoplasmic filaments and the presence of small aggregates of intermediate desmin-like filaments among a great diversity of ultrastructural findings. The morphological differential diagnosis is discussed. Our results stress the importance of combined immunohistochemistry and electron microscopy in the delineation of distal myopathies. DNA defects, however, still have to be identified which would improve the present classifications of distal myopathies.

Cytoskeletal Proteins↗

PubMed2005

Gene expression analyses in X-linked myotubular myopathy.

BACKGROUND: X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking. Analysis of MTM1 knocked-out mice indicates that the characteristic small fibers in XLMTM muscles are due to atrophy rather than hypoplasia. OBJECTIVE: To characterize gene expression profiling of skeletal muscles with XLMTM. METHOD: The authors analyzed the expression of more than 4,200 genes in skeletal muscles from eight patients with XLMTM using their custom cDNA microarray. RESULTS: In XLMTM, gene expression analysis revealed pathognomonic upregulation of transcripts for cytoskeletal and extracellular matrix proteins within or around atrophic myofibers. CONCLUSION: Remodeling of cytoskeletal and extracellular architecture appears to contribute to atrophy and intracellular organelle disorganization in XLMTM myofibers.

Cytoskeletal Proteins↗

PubMed1987

[Dominant autosomal humeroperoneal syndrome with early contractures and cardiomyopathy (Emery-Dreifuss syndrome)].

At least seven members of a family coming from southern Germany (Franconia) have manifested Emery-Dreifuss syndrome within four generations. This syndrome is characterized by slowly progressing atrophic pareses, generally in a humeroperoneal distribution, premature joint contracture, and cardiomyopathy with reduction of functional capacity. Up to now four members of this family have died from cardiac causes between the age of 39 and 46 years. Three family members have now been thoroughly examined; they showed typical muscular atrophies and contractures. The two older patients were diagnosed as having a cardiomyopathy with a complete atrioventricular block and ventricular tachycardia. Electromyographic and histological findings indicate a primary neurogenic process. Regular cardiological examinations combined with effective therapy (for example, implantation of a cardiac pacemaker and treatment with antiarrhythmic drugs) will be necessary in treating the serious arrhythmias. Progressive myocardial insufficiency required heart transplantation in one of our patients, which was successfully performed. Macroscopic and microscopic examination of the explanted heart showed a dilatative cardiomyopathy with hypertrophy and dilatation of both atria and ventricles, differences in the diameters of individual heart muscle cells, and a predominately focal interstitial fibrosis.

Adolescent↗

PubMed1973

Neurogenic muscle involvement in myasthenia gravis. A clinical and histopathological study.

An investigation was made into the occurrence of muscular atrophy and muscular pathology in a series of 170 patients with myasthenia gravis. The results can be summarized as follows: (1) Of the 148 patients with generalized myasthenia gravis, 14 showed local muscular atrophies. Of 10 biopsies from atrophic muscles, eight showed neurogenic changes, with or without lymphocytic infiltrations. One biopsy showed lymphocytic infiltrations only, and one showed type II-fibre atrophy (Table 1). No relationship was demonstrable between the presence of clilnical muscular atrophy and age, sex, duration of the disease, severity of the disease, presence of a thymoma, or drug resistant ophthalmoplegia. (2) In this group of patients 61 biopsies were examined from 46 individuals; 40 of these biopsies were taken from the quadriceps muscle. A thymoma was present in 17 patients. Examination disclosed neurogenic changes in 17 biopsies, lymphocytic infiltrates in 21, and myositis in one biopsy (Table 2). A distinct correlation was established between the presence of a thymoma and lymphocytic infiltrates, but none was demonstrable between thymoma and neurogenic changes (Table 3). (3) An enzyme-histochemical study was carried out in 35 cases, including 12 with neurogenic changes. A normal differentiation of type I- and type II-fibres was observed in eight instances, type grouping of type II-fibres in three, and type II-fibre atrophy in two cases. (4) In 21 patients and 19 controls, the smallest mean diameter was determined in the quadriceps muscle. Both type I- and type II-fibres proved to have a smaller mean diameter in the female patients than in the controls. In the male patients this could not be proven. (5) Of the eight patients who had died without disorders of ventilation, 90 muscle specimens were examined postmortem. Four of these patients had a thymoma. Lymphocytic infiltrations, found in 32 biopsy specimens, were mostly observed in the presence of a thymoma. Neurogenic changes were apparently unrelated to the presence of a thymoma (Tables 5 and 6). The post mortem examination included the spinal cord in five, and peripheral nerves in three cases. No abnormalities were found. (6) The muscular atrophy found in patients with myasthenia is not a myopathy but an affection of the lower motor neurone. Neurogenic changes were regularly found in the muscles of patients with myasthenia, even without muscular atrophy. The finding of these changes is no reason to reject the diagnosis. It is postulated that denervation occurs at the neuromuscular junction as a result of permanent absence of acetylcholine.

Adolescent↗

PubMed1998

Dural cysts in the cervical region. Report of three cases and review of the literature.

Dural spinal cysts are exceedingly rare lesions. The authors are aware of only seven cases reported in the literature. This report comprises three patients with dural cysts of the cervical spinal canal who presented with atypical neurological signs and symptoms, including a long history of dysesthesias and atrophic pareses in the proximal upper extremities. Surgical intervention disclosed two ventrally and one dorsally located cystic lesions of the spinal dura mater. The cystic wall was fenestrated and kept open by a silicone catheter in each case. Histological examination of the excised lesions revealed fibrous connective tissue consistent with dural tissue. No epithelial lining was detected. The lesions were classified as dural cysts. The patients' postoperative courses were uneventful. Although dural cysts are rare lesions, they must be considered in the differential diagnosis of spinal cystic lesions. Because they are nonaggressive and can be safely drained by microsurgical techniques, patients have a favorable prognosis. Early surgical intervention is mandatory to prevent severe neurological deficits.

Adult↗