Vacuolar myopathy

A myopathy and lysosomal storage disease that is characterized by increased glycogen staining of cardiac and skeletal muscles but normal ACID MALTASE and LAMP2 PROTEIN staining. Biopsy shows intracytoplasmic vacuoles that stain for sarcolemmal proteins and COMPLEMENT SYSTEM PROTEINS. Affected individuals may also have increased serum CREATINE KINASE and exhibit DEVELOPMENTAL DELAY, though many die in early infancy. May be isolated or autosomal recessive. OMIM: 609500

Also Known As:

Networked: 106 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Glycogen Storage Disease Type II (Pompe's Disease)
2.	Absent corpus callosum cataract immunodeficiency
3.	Muscular Diseases (Myopathy)
4.	Muscle Weakness
5.	Mitochondrial Myopathies (Mitochondrial Myopathy)

Experts

1.	Nishino, Ichizo: 5 articles (10/2019 - 06/2005)
2.	Musumeci, Olimpia: 4 articles (01/2022 - 06/2005)
3.	Toscano, Antonio: 4 articles (01/2022 - 06/2005)
4.	Rodolico, Carmelo: 3 articles (01/2022 - 06/2005)
5.	Schoser, Benedikt: 3 articles (10/2019 - 11/2008)
6.	Kishnani, Priya S: 3 articles (11/2014 - 01/2010)
7.	Proia, Alan D: 3 articles (11/2014 - 01/2010)
8.	Kundu, Mondira: 2 articles (01/2021 - 01/2019)
9.	Vogel, Peter: 2 articles (01/2021 - 01/2019)
10.	Wang, Bo: 2 articles (01/2021 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Vacuolar myopathy:

1.	GlycogenIBA 12/01/2016 - "A muscle biopsy disclosed vacuolar myopathy with glycogen storage; immunohistochemical studies demonstrated a LAMP-2 deficiency. " 06/01/2005 - "Muscle biopsy revealed a vacuolar myopathy with mild glycogen storage, and immunohistochemical studies detected LAMP-2 deficiency. " 06/01/1986 - "A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. " 01/01/2019 - "Muscle biopsy showed a vacuolar myopathy with glycogen storage. " 06/01/2018 - "Four patients had vacuolar myopathy with glycogen excess in muscle biopsy. "
2.	Chloroquine (Aralen)FDA LinkGeneric 05/01/2005 - "Limb-girdle weakness due to a vacuolar myopathy may occur occasionally in a dose-dependent manner during the first 24 months on chloroquine. " 03/16/2003 - "Muscular biopsy: vacuolar myopathy suggesting a myopathy due to chloroquine. " 07/01/1998 - "Long-term administration of chloroquine to rats induces a vacuolar myopathy, which is specifically termed chloroquine myopathy (CM). " 05/01/1998 - "We have found that amorphous tau deposits in chloroquine myopathy (CM), a vacuolar myopathy induced by the administration of chloroquine, a well-known lysosomotropic agent. " 12/01/1977 - "Pathological and biochemical observations are presented in a 55-year-old woman with lupus erythematosus and thymoma who developed a vacuolar myopathy while being treated with chloroquine. "
3.	Cystine (L-Cystine)IBA 02/01/2005 - "Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. " 06/01/1995 - "Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal blindness, a distal vacuolar myopathy, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement. "
4.	DNA (Deoxyribonucleic Acid)IBA 06/01/1999 - "In situ hybridization studies using human cardiac and muscle biopsies indicate accumulation of Xib transcript in the vacuoles of muscle cells from patients affected by vacuolar myopathy as acid maltase deficiency; however, no point mutations were detected in their DNA."
5.	LipidsIBA 01/01/2022 - "Muscle biopsies showed a vacuolar myopathy with a variable increase in lipid content. " 01/01/2022 - "A retrospective study was conducted on patients with a diagnosis of vacuolar myopathy with lipid storage followed in our neuromuscular unit in the last 20 years. " 09/01/2004 - "Liver biopsy indicated fatty metamorphosis, and muscle biopsy revealed vacuolar myopathy with lipid accumulation. " 11/01/1985 - "Muscle biopsy revealed vacuolar myopathy with accumulation of lipids. " 03/16/2003 - "Muscular biopsy: vacuolar myopathy with accumulations of phagolysosomes, lipids, lipofuscin, myelinic curvilinear bodies. "
6.	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 12/01/2018 - "Hydroxychloroquine-induced autophagic vacuolar myopathy with mitochondrial abnormalities." 06/04/2013 - "Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy." 09/01/2008 - "Hydroxychloroquine causes a vacuolar myopathy that is usually of mild to moderate severity. " 01/01/2019 - "One hydroxychloroquine-associated vacuolar myopathy patient also had inflammatory myopathy. " 04/01/2005 - "Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease."
7.	EnzymesIBA 10/28/2019 - "Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment." 05/01/1977 - "Muscle enzymes were elevated, EMG was compatible with polymositis, and muscle biopsy revealed an atypical necrotizing vacuolar myopathy. " 01/01/2023 - "Progressive muscular weakness and myopathic electromyography suggested a myopathological substrate; muscle-biopsy revealed dystrophic features with endomysial-fibrosis, fiber-size variability, necrotic/degenerative vacuolar myopathy, sarcoplasmic/myofibrillar- and striation-alterations, and enzyme histochemical and structural mitochondrial alterations/defects including vacuolar mitochondriopathy. " 04/01/2020 - "Muscle biopsy showed vacuolar myopathy in 10 patients and deficiency of myophosphorylase enzyme in all patients. " 10/01/1989 - "In the former, muscle biopsy revealed vacuolar myopathy and virtual absence of amylo-1,6-glucosidase enzyme. "
8.	ColchicineFDA LinkGeneric 12/10/2019 - "Teaching NeuroImages: Colchicine-induced vacuolar myopathy." 12/01/2013 - "Colchicine treatment is associated with an autophagic vacuolar myopathy in human patients. " 02/01/2002 - "Colchicine myopathy: a vacuolar myopathy with selective type I muscle fiber involvement. " 01/01/2012 - "Some patients treated with chloroquine, hydroxychloroquine, or colchicine develop autophagic vacuolar myopathy, the diagnosis of which currently requires electron microscopy. " 04/01/1991 - "Many drugs can induce vacuolar myopathy (colchicine, chloroquine, amiodarone, cyclosporin, drugs causing hypokalaemia and lipid-lowering agents), some others cause a mitochondrial myopathy (zidovudine) or a necrotizing myopathy as seen with vincristine. "
9.	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 01/01/1995 - "Muscle biopsy showed a vacuolar myopathy, and myophosphorylase activity was 13% of the normal mean. " 04/01/2020 - "Muscle biopsy showed vacuolar myopathy in 10 patients and deficiency of myophosphorylase enzyme in all patients. " 01/01/1993 - "In all cases, muscle biopsy demonstrated a vacuolar myopathy with free glycogen increase and absence of myophosphorylase activity, confirmed by biochemical assays. " 04/01/2000 - "Creatine kinase levels were elevated, serum lactate did not rise on ischemic exercise testing, and muscle biopsy showed a vacuolar myopathy with absent myophosphorylase activity. "
10.	Proteins (Proteins, Gene)FDA Link 04/01/2006 - "To investigate the effects of LAMP2 gene mutations on protein expression in different tissues, we screened LAMP2 gene mutations and LAMP-2 protein deficiency in the skeletal muscle of nine unrelated patients with hypertrophic cardiomyopathy and vacuolar myopathy. " 03/01/2015 - "Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin may activate the autophagic system leading to the pathologic features of an autophagic vacuolar myopathy. " 01/01/2019 - "Here, we demonstrate that disrupted expression of the core autophagy proteins ULK1 and ULK2 in mice causes a vacuolar myopathy with ubiquitin and TDP-43-positive inclusions; this myopathy is similar to that caused by VCP/p97 mutations, the most common cause of familial IBM. " 01/01/2021 - "Herein, we highlight tissue-specific differences between skeletal and cardiac muscles in their reliance on core autophagy proteins and unique roles for ULK1-ULK2 and RB1CC1 among these proteins in the development of TARDBP+ pathology.ABBREVIATIONS:AVM: autophagic vacuolar myopathy; cDKO: conditional double knockout; cKO: conditional knockout; H&E: hematoxylin and eosin; IBM: inclusion body myopathy; mtDNA: mitochondrial DNA; PFA: paraformaldehyde; RNP: ribonucleoprotein; TBST: Tris-buffered saline with 0.2% Triton X-100."

Therapies and Procedures

1.	Therapeutics 11/01/2010 - "[Elucidation of the pathomechanism for autophagic vacuolar myopathy and development of a therapy]." 08/01/2019 - "Secondly, conversely to other forms of vacuolar myopathy, some of the symptoms may respond (even partially) to immunomodulatory and/or immunosuppressant therapeutics." 01/01/2020 - "In one of these patients with a family history of muscle weakness, the vacuolar myopathy was eventually linked to chloroquine therapy. "
2.	Immunotherapy 04/01/2013 - "Sporadic inclusion body myositis (sIBM) is a slowly progressive, red-rimmed vacuolar myopathy leading to muscular atrophy and progressive weakness; it predominantly affects males older than fifty years, and is resistant to immunotherapy. " 10/01/2020 - "Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: A possible role of fibroblast growth factor 2."
3.	Kidney Transplantation 06/01/1995 - "Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal blindness, a distal vacuolar myopathy, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement. "
4.	Aftercare (After-Treatment) 05/01/2008 - "In contrast, bendroflumethiazide and dichlorphenamide failed to prevent vacuolar myopathy after treatment in vivo and failed to inhibit lactate efflux in vitro. "