1/28. Familial inclusion body myopathy with desmin storage.We report two adult familial cases of inclusion body myopathy (IBM) with desmin storage in skeletal muscle. Clinically, both patients presented late-onset, progressive, symmetrical, both proximal and distal muscle weakness. Muscle biopsy findings were identical in both cases and consisted of marked variability in fiber size, increased number of central nuclei and vacuolation involving 10% of fibers. Single or multiple vacuoles were located subsarcolemmally or in the center, and were rimmed by basophilic material. At the ultrastructural level, tubulofilamentous nuclear and cytoplasmic inclusions of 16-21 nm in diameter were frequently observed. In addition, large subsarcolemmal and central deposits composed of electron-dense granular material were present in many fibers. Immunocytochemistry revealed staining for desmin, vimentin and ubiquitin within both inclusions and vacuolated fibers. Possible structural and functional associations between these two types of muscle changes remain unclear. They may either represent two coexistent disease processes or merely reflect an abnormal form of muscle fiber degradation, with unidentifiable specificity.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/28. dermatomyositis with the features of inclusion body myositis associated with carcinoma of the bladder.Inclusion body myositis (IBM) is a unique category of inflammatory myopathy. It is characterized histologically by the presence of muscle fibres with rimmed vacuoles and abnormal intracellular accumulations of proteins. We report here a 62-year-old patient with bladder carcinoma, where the signs of IBM overlapped with clinical features of dermatomyositis (DM). A combination of cutaneous changes typical for DM with histological and other features of IBM is exceedingly rare, and has not been previously addressed in dermatological literature. To the best of our knowledge this is also the first description of the association of DM/IBM with internal malignancy.- - - - - - - - - - ranking = 0.2keywords = myopathy (Clic here for more details about this article) |
3/28. Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.It is becoming evident that clinical phenotypes associated with partial laminin alpha2 chain deficiency are variable. We recently observed a 29-year-old man with leukoencephalopathy and vacuolar myopathy resembling inclusion body myositis. laminin alpha2 immunohistochemical analysis showed reduction of the protein on muscle fiber surfaces. Molecular analysis revealed two novel compound heterozygous mutations in the LAMA2 gene. This is the first report linking a mutation in the LaMA2 gene with leukoencephalopathy and inclusion body-like myositis.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
4/28. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1.We report an Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM). The patients (two second cousins) developed a slowly progressive distal and proximal myopathy with complete sparing of the quadriceps. Muscle biopsy showed rimmed vacuoles in numerous muscle fibers, and electron microscopy documented accumulation of 15-21 nm filaments. dna analysis established linkage to 9p1 and haplotype analysis revealed that the patients shared a recombined common haplotype. The gene locus of ARQS-IBM was initially mapped to chromosome 9p1-q1 in families of Iranian-Jewish origin and later confirmed in a few other ethnic groups. This is the first report of Italian patients with ARQS-IBM showing positive linkage to chromosome 9p1. Our data suggest that patients having distal and proximal myopathy with rimmed vacuoles and possible recessive inheritance, often classified as distal myopathies, should be thoroughly investigated according to the diagnostic criteria of h-IBM and, when positive, studied for linkage to chromosome 9p1.- - - - - - - - - - ranking = 1.4keywords = myopathy (Clic here for more details about this article) |
5/28. Inclusion body myositis masquerading as polymyositis: a case study.A case of inclusion body myositis masquerading as unresponsive polymyositis is presented. A 56-year-old woman diagnosed with "biopsy-proven" polymyositis in 1991 was referred to our clinic in 1997 with progressive, painless weakness that was unresponsive to steroid therapy. Further evaluation, including electromyography and review of the original muscle biopsy specimen, found a diagnosis of inclusion body myositis, leading to a change in the patient's prognosis and management. Inclusion body myositis is frequently mistaken for polymyositis, despite the fact that it is now the most common inflammatory myopathy affecting people older than 50 years. The purpose of this report is to increase awareness of this disease, to enhance early diagnosis, and to ensure appropriate management. We discuss the clinical findings, pathogenesis, and physiatric management, as well as compare this disease with other idiopathic inflammatory myopathies.- - - - - - - - - - ranking = 0.2keywords = myopathy (Clic here for more details about this article) |
6/28. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy.At the age of five years a male child started to develop a progressive rigid spine, torsion scoliosis, and flexion contractures of his elbows, knees, hips, and ankles owing to severe proximal and distal muscle weakness. He had three muscle biopsies from three different muscles at ages 7, 11, and 14 years, respectively. Myopathologically, these muscle tissues contained numerous inclusions which, at the ultrastructural level, turned out to be reducing bodies and cytoplasmic bodies, often in close spatial proximity. Similar histological inclusions, although not further identified by histochemistry and electron microscopy, were seen in his maternal grandmother's biopsied muscle tissue who had developed weakness of the legs and hands after the age of 50 years. The patient's parents were healthy, but the mother's quadriceps muscle showed an increased spectrum of muscle fibre diameters. Our patient, thus, had a neuromuscular disorder, perhaps familial, presenting as a mixed congenital myopathy, i.e., reducing body myopathy with cytoplasmic bodies, of which the morphological lesions could be consistently documented over several years in his different limb muscles. While other mixed congenital myopathies had shown cores and rods, both related to sarcomeres and thus possibly morphogenetically related, cytoplasmic bodies thought to be related to Z-bands and reducing bodies dissimilar to any muscle fibre constituent do not share any common denominator. Therefore, we suggest that this neuromuscular disorder may be a unique mixed congenital myopathy, either sporadic or genetic. In the latter case, the transmission pattern suggested X-linked recessive inheritance, but an autosomal-dominant transmission with variable penetrance could not be ruled out.- - - - - - - - - - ranking = 2.2keywords = myopathy (Clic here for more details about this article) |
7/28. Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case.A 2-month-old male baby was admitted to our hospital with episodic cyanosis and respiratory failure which required mechanical ventilation. He was found to have upper limb flexion rigidity and poor weight gain since one month old. Progressive muscle stiffness over the abdomen, chest wall, back and four limbs were also noted. He could not be weaned from the ventilator smoothly due to recurrent CO2 retention. Laboratory tests revealed a high serum creatine kinase level. Cytoplasmic body myopathy was confirmed by muscle biopsy. The unusual initial presentations of generalized stiffness and early onset of respiratory failure were quite different from those of patients reported in the literature, who had floppiness, muscular atrophy and weakness. prednisolone and vigabatrin were given and the patient showed slight improvement in muscle stiffness and spontaneous movement.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/28. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM). Two novel nonallosteric site missense mutations were found in the QS-IBM kinship. No mutations were identified in s-IBM patients. After 8 years of follow-up and severe disease progression, the quadriceps muscle in the QS-IBM patient remains strong despite subclinical involvement documented with repeat MRI and muscle biopsy.- - - - - - - - - - ranking = 0.2keywords = myopathy (Clic here for more details about this article) |
9/28. Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions.We report a 17-year-old girl with an unusual neuromuscular disorder characterised by slowly progressive proximal muscle weakness whose muscle biopsy showed multiple ring fibres and numerous rimmed vacuoles as well as intracytoplasmic and intranuclear inclusions of the inclusion body myositis-type. The clinical features of the presented case, manifested by the onset of the disease in early childhood, delayed motor development, short stature, lordosis and joint contractures were suggestive of congenital myopathy. The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.- - - - - - - - - - ranking = 1.2keywords = myopathy (Clic here for more details about this article) |
10/28. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster.BACKGROUND: Recessively inherited hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially described only in jews originating from the region of persia. The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology of HIBM in various communities in the middle east. OBJECTIVE: To test for the M712T mutation in the dna from HIBM patients in the middle east. methods: dna from all suspected HIBM patients was tested for the M712T mutation. Unaffected members of families with genetically proven HIBM were studied too. In the majority of families, haplotype construction with markers spanning the 700-kb region of the HIBM gene was performed. RESULTS: One hundred twenty-nine HIBM patients of 55 families (Middle Eastern jews, Karaites, and Arab Muslims of Palestinian and Bedouin origin) were homozygous for the M712T mutation, and all carried the same haplotype. Five clinically unaffected subjects were also homozygous for the common mutation and haplotype, including two older adults (ages 50 and 68 years). Atypical features with this same mutation were marked quadriceps weakness in five patients, proximal weakness only in two patients, facial weakness in three patients, and a muscle biopsy showing perivascular inflammation in one patient. CONCLUSIONS: The phenotypic spectrum of recessive HIBM is wider than previously described, and the diagnostic criteria for this myopathy must be changed. The Middle Eastern cluster is the result of a founder mutation, with incomplete penetrance, that is approximately 1,300 years old and is not limited to jews.- - - - - - - - - - ranking = 1.4keywords = myopathy (Clic here for more details about this article) |
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