Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes

Elie Naddaf, Margherita Milone, Ankit Kansagra, Francis Buadi, Taxiarchis Kourelis

Research output: Contribution to journalArticle

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Abstract

OBJECTIVE: To describe the clinical phenotype, long-term treatment outcome, and overall survival of sporadic late-onset nemaline myopathy (SLONM) with or without a monoclonal protein (MP). METHODS: We conducted a retrospective chart review of patients seen between September 2000 and June 2017 and collected clinical, laboratory, and survival data. Treatment response was classified as mild, moderate, or marked as adjudged by predefined criteria. RESULTS: We identified 28 patients with SLONM; 17 (61%) had an associated MP. Median age at symptom onset was 62 years. Diagnosis was often delayed by a median of 35 months from symptom onset. There was no difference in clinical or laboratory features between patients with or without MP. Although the majority of patients had proximal or axial weakness at onset, about 18% of patients had atypical presentations. A total of 7/9 (78%) patients receiving IV immunoglobulin (IVIg), 6/8 (75%) receiving hematologic therapy as either autologous stem cell transplant (ASCT) or chemotherapy, and 1/8 (13%) receiving immunosuppressive therapies responded to treatment (p = 0.001). All 3 patients with marked response were treated with IVIg; 2 of them had an MP. The 5-year and 10-year overall survival from symptom onset was 92% and 68%, respectively, with no difference between patients with or without MP. CONCLUSION: SLONM has a wide spectrum of clinical presentations. In this contemporary case series, overall survival of patients did not seem to be affected by the presence of an MP. Initial treatment with IVIg is reasonable in all patients, followed by ASCT or chemotherapy as second-line therapy in patients with an associated MP.

Original languageEnglish (US)
Pages (from-to)e298-e305
JournalNeurology
Volume93
Issue number3
DOIs
StatePublished - Jul 16 2019

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Nemaline Myopathies
Survival
Intravenous Immunoglobulins
Proteins
Stem Cells
Therapeutics
Transplants
Drug Therapy
Immunosuppressive Agents
Age of Onset

ASJC Scopus subject areas

  • Clinical Neurology

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Sporadic late-onset nemaline myopathy : Clinical spectrum, survival, and treatment outcomes. / Naddaf, Elie; Milone, Margherita; Kansagra, Ankit; Buadi, Francis; Kourelis, Taxiarchis.

In: Neurology, Vol. 93, No. 3, 16.07.2019, p. e298-e305.

Research output: Contribution to journalArticle

Naddaf, Elie ; Milone, Margherita ; Kansagra, Ankit ; Buadi, Francis ; Kourelis, Taxiarchis. / Sporadic late-onset nemaline myopathy : Clinical spectrum, survival, and treatment outcomes. In: Neurology. 2019 ; Vol. 93, No. 3. pp. e298-e305.
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AU - Milone, Margherita

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AU - Buadi, Francis

AU - Kourelis, Taxiarchis

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N2 - OBJECTIVE: To describe the clinical phenotype, long-term treatment outcome, and overall survival of sporadic late-onset nemaline myopathy (SLONM) with or without a monoclonal protein (MP). METHODS: We conducted a retrospective chart review of patients seen between September 2000 and June 2017 and collected clinical, laboratory, and survival data. Treatment response was classified as mild, moderate, or marked as adjudged by predefined criteria. RESULTS: We identified 28 patients with SLONM; 17 (61%) had an associated MP. Median age at symptom onset was 62 years. Diagnosis was often delayed by a median of 35 months from symptom onset. There was no difference in clinical or laboratory features between patients with or without MP. Although the majority of patients had proximal or axial weakness at onset, about 18% of patients had atypical presentations. A total of 7/9 (78%) patients receiving IV immunoglobulin (IVIg), 6/8 (75%) receiving hematologic therapy as either autologous stem cell transplant (ASCT) or chemotherapy, and 1/8 (13%) receiving immunosuppressive therapies responded to treatment (p = 0.001). All 3 patients with marked response were treated with IVIg; 2 of them had an MP. The 5-year and 10-year overall survival from symptom onset was 92% and 68%, respectively, with no difference between patients with or without MP. CONCLUSION: SLONM has a wide spectrum of clinical presentations. In this contemporary case series, overall survival of patients did not seem to be affected by the presence of an MP. Initial treatment with IVIg is reasonable in all patients, followed by ASCT or chemotherapy as second-line therapy in patients with an associated MP.

AB - OBJECTIVE: To describe the clinical phenotype, long-term treatment outcome, and overall survival of sporadic late-onset nemaline myopathy (SLONM) with or without a monoclonal protein (MP). METHODS: We conducted a retrospective chart review of patients seen between September 2000 and June 2017 and collected clinical, laboratory, and survival data. Treatment response was classified as mild, moderate, or marked as adjudged by predefined criteria. RESULTS: We identified 28 patients with SLONM; 17 (61%) had an associated MP. Median age at symptom onset was 62 years. Diagnosis was often delayed by a median of 35 months from symptom onset. There was no difference in clinical or laboratory features between patients with or without MP. Although the majority of patients had proximal or axial weakness at onset, about 18% of patients had atypical presentations. A total of 7/9 (78%) patients receiving IV immunoglobulin (IVIg), 6/8 (75%) receiving hematologic therapy as either autologous stem cell transplant (ASCT) or chemotherapy, and 1/8 (13%) receiving immunosuppressive therapies responded to treatment (p = 0.001). All 3 patients with marked response were treated with IVIg; 2 of them had an MP. The 5-year and 10-year overall survival from symptom onset was 92% and 68%, respectively, with no difference between patients with or without MP. CONCLUSION: SLONM has a wide spectrum of clinical presentations. In this contemporary case series, overall survival of patients did not seem to be affected by the presence of an MP. Initial treatment with IVIg is reasonable in all patients, followed by ASCT or chemotherapy as second-line therapy in patients with an associated MP.

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