1/138. Ankylosing spondylitis and multiple sclerosis.Ankylosing spondylitis can be associated with extra-articular involvement. Besides internal and ocular complications, neurological manifestations such as single root lesions, compression of the myelum or the cauda equina syndrome have also been described. We present a patient with ankylosing spondylitis who developed a monophasic myelopathy resembling multiple sclerosis. literature data show no conclusive evidence for an increased association of ankylosing spondylitis and multiple sclerosis. However, a monophasic myelopathy may be a separate neurological manifestation associated with ankylosing spondylitis.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/138. Autosomal dominant distal myopathy not linked to the known distal myopathy loci.The distal myopathies are clinically, pathologically and genetically heterogenous. Thus far, seven types of distal myopathy have been linked to four chromosome loci. We recently examined four affected members from three generations of an autosomal dominant distal myopathy kindred. A muscle biopsy was performed on the index case. Muscle histopathology showed non-specific myopathic findings including increased variation in fiber size and increased internalized nuclei. No abnormal inclusions or vacuoles were present. Microsatellite markers for the four distal myopathy loci on chromosomes 2, 9 and 14 were studied on affected and several unaffected family members. Affected patients developed distal weakness in anterior foreleg muscles followed by progressive distal upper and proximal lower extremity involvement. Chromosome 2, 9 and 14 regional markers were informative and demonstrated recombinations with affected individuals in the pedigree. The resulting LOD scores obtained from the multipoint analyses gave no evidence of positive linkage to any of the regions and positively excluded (lod score less than -2) all, or virtually all, of the candidate regions examined. This autosomal dominant distal myopathy family does not show evidence of linkage to any of the known distal myopathy loci, suggesting the existence of at least one more distal myopathy locus. Furthermore, the clinical and pathological features appear distinct from other previously described but genetically-undetermined autosomal dominant distal myopathies.- - - - - - - - - - ranking = 78805.931441334keywords = myopathy (Clic here for more details about this article) |
3/138. Myopathy with trabecular muscle fibers.A systematic review of muscle biopsies over a 15 year period in a large neurological hospital revealed 21 cases (7% of the total of non-inflammatory myopathies) with a distinctive pattern of myopathology and a limb-girdle clinical phenotype. The muscle pathology was dominated by a large prevalence (20-90%) of trabecular or lobulated fibers in which maldistribution of intermyofibrillar mitochondria produced a lobulated pattern of oxidative enzyme activity on transverse sections. The clinical picture was characterized by adult onset, slowly progressive muscle weakness affecting mainly proximal limb musculature, although mild distal weakness was also present in 60% of the cases. The trabecular pattern of oxidative enzyme reaction reflects maldistribution of the intermyofibrillar mitochondria; this may be caused by malfunction of a putative anchoring mechanism. While trabecular fibers can occur as a nonspecific alteration of muscle fibers in many diverse myopathies, the high prevalence of trabecular fibers as the dominant pathology in trabecular fiber myopathy makes it a distinctive (though not necessarily etiologically homogeneous) clinico-pathological entity.- - - - - - - - - - ranking = 5628.9951029524keywords = myopathy (Clic here for more details about this article) |
4/138. Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy.We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. dna and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.- - - - - - - - - - ranking = 17257.106632082keywords = muscular dystrophy, myopathy, dystrophy (Clic here for more details about this article) |
5/138. Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.The mitochondrial mutation A-->G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopathy with painful muscle stiffness as the predominant symptom. Additionally hypacusis, a mild hemisensory syndrome and impaired glucose tolerance were present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in dna from muscle and blood. So far painful muscle stiffness has not been a known phenotype of the 3243 mutation.- - - - - - - - - - ranking = 11257.990205905keywords = myopathy (Clic here for more details about this article) |
6/138. Case of the month: February 1999--54 year old man with severe muscle weakness.A 54 year old man developed rhabdomyolysis one year after beginning treatment with a combination of lovastatin (an HMGCoA reductase inhibitor) and niacin. Muscle biopsy showed a severe necrotizing myopathy affecting both fibre types. Recovery occured gradually with cessation of medication. The spectrum of cholesterol lowering agent myopathy may include delayed cases of unusual severity.- - - - - - - - - - ranking = 11257.990205905keywords = myopathy (Clic here for more details about this article) |
7/138. adult-onset nemaline myopathy: Another cause of dropped head.A 59-year-old man with severe neck extensor weakness had findings diagnostic of nemaline myopathy on muscle biopsy. review of the literature shows that dropped head occurs in nearly half of the patients with adult-onset nemaline myopathy. Other leading causes of dropped head syndrome are amyotrophic lateral sclerosis, myasthenia gravis, and isolated neck extensor myopathy.- - - - - - - - - - ranking = 39402.965720667keywords = myopathy (Clic here for more details about this article) |
8/138. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency.plectin, an intermediate filament linking protein, is normally associated with the sarcolemma, nuclear membrane, and intermyofibrillar network in muscle, and with hemisdesmosomes in skin. A 20-year-old female with epidermolysis bullosa simplex since birth had progressive ocular, facial, limb, and trunkal weakness and fatigability since age 9, fivefold CK elevation, a 25% decrement with myopathic motor unit potentials and increased electrical irritability on electromyography, and no anti-acetylcholine receptor (AChR) antibodies. plectin expression was absent in muscle and severe plectin deficiency was noted in skin. Morphologic studies revealed necrotic and regenerating fibers and a wide spectrum of ultrastructural abnormalities: large accumulations of heterochromatic and lobulated nuclei, rare apoptotic nuclei, numerous cytoplasmic and few intranuclear nemaline rods, disarrayed myofibrils, thick-filament loss, vacuolar change, and pathologic alterations in membranous organelles. Many endplates (EPs) had an abnormal configuration with chains of small regions over the fiber surface and a few displayed focal degeneration of the junctional folds. The EP AChR content was normal. in vitro electrophysiologic studies showed normal quantal release by nerve impulse, small miniature EP potentials, and fetal as well as adult AChR channels at the EP. Our findings support the notion that plectin is essential for the structural integrity of muscle and skin, and for normal neuromuscular transmission.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
9/138. A case of McLeod syndrome with unusually severe myopathy.A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.- - - - - - - - - - ranking = 45772.203470068keywords = muscular dystrophy, myopathy, dystrophy (Clic here for more details about this article) |
10/138. Dropped head syndrome. Three case-reports.Dropped head syndrome is characterized by gradual forward sagging of the head due to weakness of the neck extensor muscles. We report three cases in elderly patients seen by rheumatologists at our institution. There was some evidence suggestive of a neurogenic process, whereas most reported cases of dropped head syndrome have been ascribed to myopathy. Dropped head syndrome can probably be produced by multiple causes. The close ties between dropped head syndrome and acquired camptocormia in adults are discussed.- - - - - - - - - - ranking = 5628.9951029524keywords = myopathy (Clic here for more details about this article) |
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