Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. [ncbi.nlm.nih.gov]

In the second part of the project we performed a deep morphological analysis in our cohort of more than 100 patients presenting a congenital myopathy and we identified homogeneous cohorts of patients presenting neonatal or antenatal onset congenital myopathies [theses.fr]

Respiratory affection resulting in dyspnea was present in four patients at disease onset. Interestingly, 3 of these 4 patients MK 0893 with dyspnea as a presenting symptom did not suffer symptoms from insufficient breathing prior to presentation. [ablkinase.com]

Within families, there can be considerable variation with respect to disease presentation and degree of muscle involvement. The serum creatine kinase (CK) levels are either normal or usually mildly elevated. [neurology.mhmedical.com]

• Wheelchair Bound

  The decreased muscle function can lead to serious physical inability and the patient may become permanently wheelchair-bound. The disorder may even turn fatal due to the complications arising from it. [primehealthchannel.com]

Such a presentation requires a persistent medical workup and treatment of reversible causes before surgical intervention is contemplated. [thieme-connect.com]

This hypothesis is supported by the coexistence of nemaline rods and polymyositis14 and by the finding of both disorders in patients with human immunodeficiency virus infection.11 Despite an extensive workup, no evidence of altered immunity was present [the-medical-dictionary.com]

“Perhaps the treatment used here for this disease might work for others,” he added. [journals.lww.com]

Stem cell therapy is being considered as a possible treatment option for adult-onset NM as some patients have responded well to this treatment. [primehealthchannel.com]

These is insufficient scientific evidence of the effectiveness of these treatments. [ncbi.nlm.nih.gov]

No proven effective therapy other than symptomatic treatment Symptomatic treatment has shown to be helpful in many patients ( Semin Pediatr Neurol 2011;18:230 ) Mechanical nighttime ventilation Orthoses Nasogastric feeding and nutritional support Aggressive [pathologyoutlines.com]

Factors that may portend an unfavorable outcome are a long disease course before the hematologic treatment and a poor hematologic response. [pesquisa.bvsalud.org]

[…] monoclonal gammopathy are clues for the diagnosis of sporadic late onset nemaline myopathy. 2) The diagnosis is confirmed by visualizing the rods in trichrome or immunostained cryosections. 3) An associated monoclonal gammopathy heralds an unfavorable prognosis [unboundmedicine.com]

Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis. Genetic counseling Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found. Last updated: 10/10/2011 [rarediseases.info.nih.gov]

The monoclonal gammopathy of unknown significance ( MGUS ) associated with a worse prognosis also argues for an immune disorder. On electron microscopy, nemaline bodies within the affected muscle fibers may be found. [en.wikipedia.org]

Prognosis Prognosis depends on the NM type, and life expectancy ranges from few months to a near-normal lifespan. The documents contained in this web site are presented for information purposes only. [orpha.net]

We highlight the severe neonatal forms (nemaline, X-linked myotubular) to be identified early to establish prognosis and provide appropriate genetic counseling. [ncbi.nlm.nih.gov]

Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. [ncbi.nlm.nih.gov]

Pathophysiology [ edit ] The etiology is unknown. [5] Some cases of SLONM have been comorbid with HIV infection, and others with immune disorders, and so both a viral trigger and an autoimmune disorder have been considered candidate etiologies. [en.wikipedia.org]

BACKGROUND Non-HIV-related SLONM is an uncommon disease of undefined etiology. [unboundmedicine.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

Adult-onset NM is usually sporadic ( Etiology Seven genes involved in muscle thin filament structure and function, have been linked to NM: NEB (2q22), TPM2 (9p13), TPM3 (1q21.2), ACTA1 (1q42.13), TNNT1 (19q13.4), CFL2 (14q12) and KBTBD13 (15q22.31). [orpha.net]

Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents Clinical description Adult onset NM occurs sporadically between 20 and 50 years of age. [rarediseases.info.nih.gov]

Summary Epidemiology Annual incidence has been estimated at 1/50,000 live births in a Finnish study but the disease is more common in the Amish community. Clinical description The age of onset varies from birth to adulthood. [orpha.net]

In China, only a few NM cases were reported, and related epidemiological data have not yet become available. [spandidos-publications.com]

Epidemiology Frequency The true incidence of congenital myopathies is unknown as no large population-based studies have been conducted. However, there are a varied number of stuidies that demonstrate a relative incidence of the diseases. [emedicine.medscape.com]

＜多発性硬化症の疫学＞：Epidemiology of Multiple Sclerosis医学のあゆみ【免疫性神経疾患-病態解明と治療の最前線】、255巻5号 Page353-356, 2015. 田中章浩，山野光彦，辻貞俊．高齢者てんかんの特徴と治療．最新医学70: 1061-1065, 2015. 森井芙貴子，水野敏樹, 中川正法, 井上治久. iPS細胞を用いた神経変性疾患病態解析.脳神経系の発生・再生の融合的新展開 4 章 Page2-6, 2015. 向井麻央，水野敏樹. [neurology-kpum.com]

Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.com]

センター神経内科 Department of Neurology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan 3 国立精神・神経医療研究センター神経研究所疾病研究第一部 Department of Neuromuscular Research, National Center of Neurology and Psychiatry ◇ Tokyo, Japan 4 東京医科大学病態生理学分野 Department of Pathophysiology [jpccs.jp]

Pathophysiology [ edit ] The etiology is unknown. [5] Some cases of SLONM have been comorbid with HIV infection, and others with immune disorders, and so both a viral trigger and an autoimmune disorder have been considered candidate etiologies. [en.wikipedia.org]

[…] severity Most common mutations are NEB (recessive) and ACTA1 (dominant) Terminology Nemaline myopathy (NM), nemaline rod myopathy "Nemaline" means thread-like, describes the appearance of rods ( Semin Pediatr Neurol 2011;18:230 ) Greek nema = thread Pathophysiology [pathologyoutlines.com]

- Morphological analysis and investigation of pathophysiological mechanisms underlying the appearance of the protein aggregates in patients with RBM and other phenotype associated with mutation in the FHL1 gene. 2. - Clinical and morphological characterisation [theses.fr]

Physiotherapy is frequently used for those suffering with Nemaline Myopathy to facilitate maintenance of muscle strength and joint range of movement, whilst working to prevent scoliosis (curvature of the spine) and muscle tightness. [manchesterneurophysio.co.uk]

Nemaline Myopathy Prevention It is not possible to prevent NM as it is a hereditary condition. Genetic counseling can help couples with a family history of the disorder to find out their chances of having a child with the syndrome. [primehealthchannel.com]

There is no cure for NEM to date, but a number of procedurescould significantly improve the quality of life 1, 15 : Treatment of lower respiratory tract infections Ventilator use for nocturnal hypoxia Special feeding techniques Physical therapy to help prevent [centogene.com]

View Article Google Scholar Centers for Disease C, Prevention. Revised surveillance case definition for HIV infection--United States, 2014. MMWR Recomme Rep. 2014;63(Rr-03):1–10. [ojrd.biomedcentral.com]

Some of these conditions have disease-modifying treatment available, but even in the absence of such therapy, the management of respiratory failure with supportive care such as NIV and cough assist is recommended to improve quality of life and prevent [dovepress.com]