Inclusion Body Myositis
The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[ncbi.nlm.nih.gov]
We performed a muscle biopsy that showed inclusion body myositis (IBM).[ncbi.nlm.nih.gov]
Abstract OBJECTIVE: Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature.[ncbi.nlm.nih.gov]
Inclusion Body Myopathy
The muscle biopsy of inclusion body myositis shows mild to moderate inflammation, atrophic denervated fibers, and most characteristically "rimmed vacuoles" as well as some[bcm.edu]
The most significant muscle pathology is the presence of rimmed vacuoles, which appear to play a major role in muscle atrophy and weakness.[ncbi.nlm.nih.gov]
HIBM was originally described as rimmed vacuole myopathy sparing the quadriceps; therefore, the two diseases have been suspected to be allelic.[ncbi.nlm.nih.gov]
Distal Myopathy Type 3
[…] to the ones seen in inclusion body myositis (IBM).[sites.google.com]
Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com]
Yonsei Medical Journal. 2013; 54(3): 578-582 [Pubmed] 7 Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case Kannan, M.A. and Challa, S. and Urtizberea[neurologyindia.com]
Oculopharyngeal Muscular Dystrophy
Histological and histochemical studies of muscle biopsy showed nonspecific myopathic changes; no "ragged-red" fibers were seen.[ncbi.nlm.nih.gov]
In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared[ncbi.nlm.nih.gov]
A muscle biopsy specimen in Case 2 showed abundant rimmed vacuoles and abnormal filaments 13-19 nm in diameter in the sarcoplasm, usually reported to occur in inclusion body[ncbi.nlm.nih.gov]
Sarcotubular Myopathy
Muscle biopsy of myofibrillar myopathies See the list below.[emedicine.medscape.com]
The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[ncbi.nlm.nih.gov]
Myriad small spaces appeared in abnormal fibers in the transverse sections, while in longitudinal sections the vacuolation was segmental in distribution.[mayoclinic.pure.elsevier.com]
Mucolipidosis
EM studies of biopsy specimens taken from skin, conjunctiva, peripheral nerve, muscle, and liver show two types of inclusions in ML-IV, membrane-bound vesicles filled with[neurologyindia.com]
We demonstrate that the vacuoles in the exocrine glands are enlarged autolysosomes containing undigested cytoplasmic material that accumulate secondary to deficient lysosomal[ncbi.nlm.nih.gov]
vacuolization due to large lysosomes containing lamellar, concentric and cystic membranous inclusions ( Am J Surg Pathol 1999;23:1527 ) Microscopic (histologic) images Images[pathologyoutlines.com]
Limb-Girdle Muscular Dystrophy
A muscle biopsy will show ragged-red fibers which contain accumulations of glycogen and neutral lipids.[lecturio.com]
[…] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[ncbi.nlm.nih.gov]
Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[ncbi.nlm.nih.gov]
Autosomal Recessive Limb-Girdle Muscular Dystrophy
A muscle biopsy will show ragged-red fibers which contain accumulations of glycogen and neutral lipids.[lecturio.com]
Histopathology of skeletal muscles biopsies showed typical dystrophic changes with many rimmed vacuoles.[ncbi.nlm.nih.gov]
[…] sibs from one of them (family LG61) revealed some clinical and laboratory findings (early involvement of the distal muscles, mildly elevated serum CK levels, and rimmed vacuoles[ncbi.nlm.nih.gov]
Neuronal Ceroid Lipofuscinosis 3
Skin and muscle biopsy for inclusion bodies were negative and blood film showed no vacuolated lymphocytes.[pediatricneurosciences.com]
The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.[uniprot.org]
The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3.[mybiosource.com]
Myositis
Muscle biopsy reveals inclusion bodies i.e. rimmed vacuoles formed due to the collection of abnormal proteins.[kenhub.com]
", although the extent of myofibers having classic rimmed vacuoles varies ( Dubowitz: Muscle Biopsy: A Practical Approach, 2013, 4th Edition ) The vacuoles disrupt the myofiber[pathologyoutlines.com]
Possible inclusion body myositis If the muscle shows only inflammation (invasion of nonnecrotic muscle fibers by mononuclear cells)—without other pathologic features of inclusion[ncbi.nlm.nih.gov]