Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability
https://doi.org/10.4081/ejtm.2020.9225
Accepted: 2 August 2020
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Monoclonal gammopathy of undetermined significance (MGUS) associated to sporadic late onset nemaline myopathy (SLONM) is a rare and severely disabling condition of quickly progressive limb girdle acquired myopathy. It is believed by some authors to be due to myotoxicity of light chain deposits. Two female patients were diagnosed with MGUS associated SLONM. In the first case, diagnosis was delayed by 6 years thus giving time for a severe generalized myopathy and cardiomyopathy to develop. A single anti-myeloma chemotherapy with lenalidomide markedly improved and stabilized the patient’s condition despite respiratory and cardiac insufficiency. In our second patient the condition was identified one year after onset of the first symptom and markedly improved after autologous bone marrow transplantation and lenalidomide. Clinicians should be aware of monoclonal gammopathy associated sporadic late onset nemaline myopathy as this acquired muscle disorder, although extremely rare, may be reversed by adequate management.
Shy GM, Engel WK, Somers JE, et al. Nemaline myopathy: a new congenital myopathy. Brain 1963; 86: 793-810. DOI: https://doi.org/10.1093/brain/86.4.793
Engel AG. Late onset rod myopathy. Mayo Clin Proc 1966; 41: 713-41.
Engel WK, Resnick JS. Late rod myopathy: a newly recognized acquired and progressive disease. Neurology 1966; 16: 308-9.
Engel WK, Oberk MA. Abundant nuclear rods in adult onset rod disease. J Neuropathol Exp Neurol 1975; 34: 119-32. DOI: https://doi.org/10.1097/00005072-197503000-00001
Eymard B, Brouet JC, Collin H, et al. Late-onset rod myopathy associated with monoclonal gammopathy. Neuromusc Disord 1993; 3: 557-60. DOI: https://doi.org/10.1016/0960-8966(93)90115-Z
Deconinck N, Laterre EC, Van den Bergh PYK. Adult-onset nemaline myopathy and monoclonal gammopathy. Acta Neurol Belg 2000; 100: 34-40.
Nakagawa M, Hirata K. Adult onset nemaline myopathy and monoclonal gammopathy [in Japanese]. Ryoikibetsu Shokogun Shirizu. 2001; 406-13.
Keller CE, Hays AP, Rowland LP, et al. Adult-onset nemaline myopathy and monoclonal gammopathy. Arch Neurol 2006; 63: 132-4. DOI: https://doi.org/10.1001/archneur.63.1.132
Milone M, Katz A, Amato AA et al. Sporadic late onset nemaline myopathy responsive to IVIG and immunotherapy. Muscle Nerve 2010; 41: 272-6.
Voermans NC, Benveniste O, Minnema MC et al. Sporadic late-onset nemaline myopathy with MGUS. Long term follow-up after melphalan and SCT. Neurology 2014; 83: 1-7. DOI: https://doi.org/10.1212/WNL.0000000000001047
Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, et al. Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. Orphanet J Rare Dis 2017; 12; 86: 1-12. DOI: https://doi.org/10.1186/s13023-017-0640-2
Uruha A, Benveniste O. Sporadic-late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. Curr Opin Neurol 2017; 30: 1-7. DOI: https://doi.org/10.1097/WCO.0000000000000477
Monforte M, Primiano G, Silvestri G, et al. Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. J Neurol 2018; 265: 542-51. DOI: https://doi.org/10.1007/s00415-018-8741-y
Naddaf E, Milone M, Kansagra A, et al. Sporadic late-onset nemaline myopathy: clinical spectrum, survival and treatment outcomes. Neurology 2019; 93: 298-305. DOI: https://doi.org/10.1212/WNL.0000000000007777
Chahin N, Selcen D, Engel AG. Sporadic late onset nemaline myopathy. Neurology 2005; 65: 1158-64. DOI: https://doi.org/10.1212/01.wnl.0000180362.90078.dc
Danon MJ, Giometti CS, Manaligod JR, et al. Adult-onset nemaline rods in a patient treated for suspected dermatomyositis. Arch Neurol 1981; 38: 761-6. DOI: https://doi.org/10.1001/archneur.1981.00510120061010
Dalakas MC, Pezeshkpour GH, Flaherty M. Progressive nemaline (rod) myopathy associated with HIV infection. N Engl J Med 1987; 317: 1602-3. DOI: https://doi.org/10.1056/NEJM198712173172511
Kimura M, Furuta M, Hiruma S et al. Nemaline bodies of skeletal muscle fibers of the neck in a case of pharyngeal cancer. Pathol Int 1997; 47:256-9. DOI: https://doi.org/10.1111/j.1440-1827.1997.tb04488.x
Sun AP, Ohtsuki Y, Yano T et al. Typical nemaline bodies presenting in a patient with polymyositis. Med Electron Microsc 2002; 35: 167-72. DOI: https://doi.org/10.1007/s007950200021
Mizuno Y, Mori-Yoshimura M, Okamoto T. et al. Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. Rinsho Shinkeigaku (Clin Neurol) 2016; 56: 605-11. DOI: https://doi.org/10.5692/clinicalneurol.cn-000893
Türk M, Nagel AM, Roemer F, et al. Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report. BMC Musculoskeletal Disorders 2019; 20: 553-6. DOI: https://doi.org/10.1186/s12891-019-2942-0
Voermans NC, Minnema N, Lammens M et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 2008; 71: 532-4. DOI: https://doi.org/10.1212/01.wnl.0000310814.54623.6f
Maeda HM, Ohta H, Izutsu K, et al. Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. Muscle Nerve 2015; 51: 772-4. DOI: https://doi.org/10.1002/mus.24509
Doppler K, Knop S, Einsele H, Sommer C. Sporadic late onset nemaline myopathy and immunoglobulin deposition disease. Muscle Nerve 2013; 48: 983-8. DOI: https://doi.org/10.1002/mus.23954
Belhomme N, Maamar A, Le Gallou T, et al. Rare myopathy associated to MGUS causing heart failure and responding to chemotherapy. Ann Hematol 2017; 96: 695-6. DOI: https://doi.org/10.1007/s00277-016-2916-3
Benveniste O, Laforet P, Dubourg O et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 2008; 71: 531-2. DOI: https://doi.org/10.1212/01.wnl.0000310813.79325.32
Montagnese F, Portaro S, Musumeci O, et al. Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone. Muscle Nerve 2015; 51: 934-5. DOI: https://doi.org/10.1002/mus.24545
Novy J, Rosselet A, Spertini O, et al. Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy. Muscle Nerve 2010; 41: 286-7. DOI: https://doi.org/10.1002/mus.21560
Pennisi EM, Arca M, Bertini E, Bruno C, et al.; Italian NLSD Group. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis 2017; 12: 90. DOI: https://doi.org/10.1186/s13023-017-0646-9
Missaglia S, Pegoraro V, Marozzo R, Tavian D, Angelini C. Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients Eur J Transl Myol 2020; 30: xx1-xx5. DOI: https://doi.org/10.4081/ejtm.2019.8880
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