Nemaline Myopathy in an Adult with Primary Hypothyroidism

Reyes, Marc G.; Tal, Alexander; Abrahamson, David; Schwartz, Maurice A.

doi:10.1017/s0317167100036039

Cited by 20 publications

(17 citation statements)

References 8 publications

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“…In the other two, anti-thyroid peroxidase antibodies and anti-thyroglobulin antibodies were negative in serum. TSH was increased in one [28] and decreased in another [29] patient. Electromyography (EMG) mainly showed myopathic changes (84%).…”

Section: Resultsmentioning

confidence: 99%

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Schnitzler

Schreckenbach²,

Nadaj‐Pakleza

et al. 2017

Orphanet J Rare Dis

132

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BackgroundSporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking.MethodsWe studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966–2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases. In 6 SLONM patients, we performed a targeted next-generation sequencing (NGS) panel comprising 283 myopathy genes.ResultsSLONM patients had a mean age at onset of 52 years. The predominant phenotype consisted of weakness and atrophy of proximal upper limbs in 84%, of proximal lower limbs in 80% and both in 67%. Other common symptoms included axial weakness in 68%, as well as dyspnea in 55% and dysphagia in 47% of the patients. In 53% a monoclonal gammopathy of unknown significance (MGUS) was detected in serum. The mean percentage of muscle fibers containing rods was 28% (range 1–63%). In 2 cases ultrastructural analysis was necessary to detect the rods. The most successful treatment in SLONM patients (all with MGUS) was autologous peripheral blood stem cell therapy. A targeted NGS gene panel in 6 SLONM patients (without MGUS) did not reveal causative pathogenic variants.In a comparison of SLONM patients with and without MGUS, the former comprised significantly more males, had more rapid disease progression, and more vacuolar changes in muscle fibers. Interestingly, the muscle biopsy of 2 SLONM patients with MGUS revealed intranuclear rods, whereas this feature was not seen in any of the biopsies from patients without paraproteinemia.Compared to the overall SLONM cohort, significantly more HIV-NM patients were male, with a lower age at onset (mean 34 years). In addition, immunosuppression was more frequently applied with more favorable outcome, and muscle biopsies revealed a significantly higher degree of inflammation and necrosis in this cohort. Similar to SLONM, MGUS was present in half of the HIV-NM patients.ConclusionsSLONM presents a challenging, but important differential diagnosis to other neuromuscular diseases of adult onset. Investigations for MGUS and HIV should be performed, as they require distinct but often effective therapeutic approaches. Even though SLONM and HIV-NM show some differences, there exists a large clinico-pathological overlap between the 2 entities.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0640-2) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Schnitzler

Schreckenbach²,

Nadaj‐Pakleza

et al. 2017

Orphanet J Rare Dis

132

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“…Among reported cases of adultonset nemaline myopathy without HIV infection, 12 were associated with a monoclonal gammopathy. 2,10 Other conditions reported in association with nemaline myopathy include hypothyroidism 13 and dermatomyositis. 4 In our patient thyroid function was normal, a full autoimmune profile was negative, and a myeloma screen excluded a monoclonal gammopathy.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic adult‐onset nemaline myopathy presenting with isolated respiratory failure

et al. 2009

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Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. This case study reports a 60-year-old woman who presented with isolated type 2 respiratory failure secondary to bilateral hemidiaphragm weakness. A left vastus medialis muscle biopsy examined under light microscopy revealed appearances typical of nemaline myopathy. Electron microscopy confirmed the presence of nemaline rods in most muscle fibers, thus establishing idiopathic adult-onset nemaline myopathy as the cause of her respiratory failure. Our patient's presentation highlights the importance of considering neuromuscular weakness as a cause of respiratory failure. Unless appropriate tests are performed-including a muscle biopsy, if indicated-specific neuromuscular diseases are easily missed. This can lead to inappropriate counseling and treatment.

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“…It should be noted that NB per se is not specific although its presence is a mandatory finding of nemaline myopathies. NB can be observed also in idiopathic inflammatory myopathies, alcoholic myopathy, advanced stage of muscular dystrophies, hypothyroidism, cancer invasion, and chronic neuropathy like spinal muscular atrophy [37][38][39][40][41][42]. Empirically, a small number of fibers with NB can be seen physiologically if the muscle is biopsied near tendon.…”

Section: Muscle Pathologymentioning

confidence: 99%

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance

Uruha

Benveniste

2017

Current Opinion in Neurology

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To cite this version:Akinori Uruha, Olivier Benveniste. The prognosis is poor due to severe respiratory insufficiency. Recently, however, autologous stem cell transplantation following high-dose melphalan (HDM-SCT) has been shown to be effective unless there is delay before the treatment. Therefore, early recognition of the disease is important.This review gives an overview of recent advances in SLONM-MGUS, which could help to understand clinical and pathological features and treatment. Autologous stem cell transplantation following high-dose melphalan Recent findings Key points• Sporadic late-onset nemaline myopathy (SLONM) with monoclonal gammopathy of undetermined significance (MGUS) shows subacute progressive muscle weakness with severe respiratory insufficiency.• Head drop, MGUS and nemaline body are typical signs of SLONM-MGUS.• Heart failure possibly appears as an extramuscular involvement.• Anti-plasma cell dyscrasia therapy including autologous stem cell transplantation following high-dose melphalan is effective.

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Nemaline Myopathy in an Adult with Primary Hypothyroidism

Cited by 20 publications

References 8 publications

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Idiopathic adult‐onset nemaline myopathy presenting with isolated respiratory failure

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance

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