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Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Patient: Male, 16 Final Diagnosis: Miyoshi myopathy Symptoms: HyperCKemia • myalgia • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical f...

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Autores principales: Scalco, Renata Siciliani, Lorenzoni, Paulo José, Lynch, David S., Martins, William Alves, Jungbluth, Heinz, Quinlivan, Ros, Becker, Jefferson, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228759/
https://www.ncbi.nlm.nih.gov/pubmed/28053302
http://dx.doi.org/10.12659/AJCR.900970
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author Scalco, Renata Siciliani
Lorenzoni, Paulo José
Lynch, David S.
Martins, William Alves
Jungbluth, Heinz
Quinlivan, Ros
Becker, Jefferson
Houlden, Henry
author_facet Scalco, Renata Siciliani
Lorenzoni, Paulo José
Lynch, David S.
Martins, William Alves
Jungbluth, Heinz
Quinlivan, Ros
Becker, Jefferson
Houlden, Henry
author_sort Scalco, Renata Siciliani
collection PubMed
description Patient: Male, 16 Final Diagnosis: Miyoshi myopathy Symptoms: HyperCKemia • myalgia • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT: We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy. Three years into his illness, he was referred for neuromuscular evaluation presenting with untreatable muscle pain and progressive weakness. The diagnosis of “refractory polymyositis” was revisited. Targeted exome sequencing revealed homozygous pathogenic mutations in the DYSF gene, confirming a diagnosis of Miyoshi myopathy. CONCLUSIONS: Our case illustrates that severe muscle pain may be the initial feature of Miyoshi myopathy and should be considered in the differential diagnosis of inflammatory myopathies. Although the described patient reported partial clinical improvement in muscle pain, steroid treatment is not an effective therapy for dysferlinopathy patients and it did not prevent disease progression. In addition, we confirm the utility of next-generation sequencing approaches to myopathies, particularly in complex or unusual cases when muscle biopsy is not available.
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spelling pubmed-52287592017-01-18 Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? Scalco, Renata Siciliani Lorenzoni, Paulo José Lynch, David S. Martins, William Alves Jungbluth, Heinz Quinlivan, Ros Becker, Jefferson Houlden, Henry Am J Case Rep Articles Patient: Male, 16 Final Diagnosis: Miyoshi myopathy Symptoms: HyperCKemia • myalgia • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical suspicion is required to guide the genetic investigation. CASE REPORT: We report the case of a 16-year-old male who presented with severe bilateral calf pain and elevated CK levels (15 000 IU/l) who was on prolonged steroid therapy prompted by the clinical suspicion of inflammatory myopathy. Three years into his illness, he was referred for neuromuscular evaluation presenting with untreatable muscle pain and progressive weakness. The diagnosis of “refractory polymyositis” was revisited. Targeted exome sequencing revealed homozygous pathogenic mutations in the DYSF gene, confirming a diagnosis of Miyoshi myopathy. CONCLUSIONS: Our case illustrates that severe muscle pain may be the initial feature of Miyoshi myopathy and should be considered in the differential diagnosis of inflammatory myopathies. Although the described patient reported partial clinical improvement in muscle pain, steroid treatment is not an effective therapy for dysferlinopathy patients and it did not prevent disease progression. In addition, we confirm the utility of next-generation sequencing approaches to myopathies, particularly in complex or unusual cases when muscle biopsy is not available. International Scientific Literature, Inc. 2017-01-05 /pmc/articles/PMC5228759/ /pubmed/28053302 http://dx.doi.org/10.12659/AJCR.900970 Text en © Am J Case Rep, 2017 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
spellingShingle Articles
Scalco, Renata Siciliani
Lorenzoni, Paulo José
Lynch, David S.
Martins, William Alves
Jungbluth, Heinz
Quinlivan, Ros
Becker, Jefferson
Houlden, Henry
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title_full Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title_fullStr Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title_full_unstemmed Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title_short Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?
title_sort polymyositis without beneficial response to steroid therapy: should miyoshi myopathy be a differential diagnosis?
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5228759/
https://www.ncbi.nlm.nih.gov/pubmed/28053302
http://dx.doi.org/10.12659/AJCR.900970
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