Symptoma

Batten-Turner Congenital Myopathy

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]

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]

  • Difficulty Walking

    Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent [books.google.com]

    I could walk, but had difficulty walking up stairs. In November 2005 I went to the Mayo clinic. They did another biopsy and found the SLONM. They were very discouraging because they had never been able to successfully treat the condition. [nemaline.org]

    The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. [icdlist.com]

    The 79-year-old patient was unhappy with the outcome because of decreased neck mobility and difficulty walking after surgery. [thieme-connect.com]

  • Painter

    The patient had previously worked in themanufacture of insulation material but had workedas a painter for the last 2 years. He stopped smokingin 1983, rarely drank alcohol, and never used drugsfor recreational purposes. [documents.tips]

  • Chills

    The patient had no difficulty swal-lowing, shortness of breath, diplopia, ptosis, skinrash, fever, chills, numbness, or bowel or bladdersymptoms. [documents.tips]

  • Hypoventilation

    We emphasize mutations of ryanodine gene (RYR1) through its association with malignant hyperthermia and mutations of selenoprotein 1 (SEPN1) and nemaline by its association with nocturnal hypoventilation. [ncbi.nlm.nih.gov]

    An arterial or capillary carbon dioxide level of 45 mmHg is consistent with hypoventilation. Additional testing may assist with the diagnosis of respiratory muscle weakness. [dovepress.com]

    Weakness of respiratory muscles is common and may cause breathing difficulties, and nocturnal hypoventilation, a condition in which inadequate breathing during sleep results in increased levels of carbon dioxide in the blood (hypercarbia). [rarediseases.org]

    Achilles tendon reexes were ab-sent, but all other deep tendon reexes were present.Overnight sleep oximetry revealed episodes of pro-found desaturation secondary to hypoventilation and,on occasion, cessation of respiratory effort. [myslide.es]

    Nemaline myopathy (also called rod myopathy or nemaline rod myopathy ) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. [en.wikipedia.org]

  • Hypertension

    He noticed no definite improvement af-ter a brief course of prednisone.Past medical history was notable for a posttrau-matic seizure disorder, hypertension, and hypercho-lesterolemia. [documents.tips]

  • Osteoporosis

    Osteoporosis is also common in NM. Although patients early on often have mobility in their joints that is past the normal range, as they age, joint deformities and scoliosis usually occur. [en.wikipedia.org]

    Amin et al presented a patient with long-standing DHS and osteoporosis who was managed with instrumented fusion spanning C2 – T11 after suffering a fall and multiple thoracic vertebral fractures [ 6 ]. [thieme-connect.com]

    Serologically Determined Gastric Mucosal Condition Is a Predictive Factor for Osteoporosis in Japanese Men. Dig Dis Sci. 60: 2063-2069, 2015. [neurology-kpum.com]

  • Neck Weakness

    A dropped head or neck weakness or cardiomyopathy may be the first signs of the disorder. The quickness of the progression of muscle weakness is quite variable in this form. North, K. a. (2015, June 11). Nemaline Myopathy. [thinkgenetic.com]

    Neck weakness may occur in isola-tion or in association with a generalized neuromus-cular disorder. [documents.tips]

  • Akinesia

    There was a discrete akinesia and symmetrical hypertonia of all four limbs related to neuroleptic drugs. Creatine kinase was 143 IU/L (normal range: 40–225 IU/L). [em-consulte.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]

  • Hypercapnia

    January 21, 2009 Issue release date: 1995 Number of Print Pages: 2 Number of Figures: 0 Number of Tables: 0 ISSN: 0025-7931 (Print) eISSN: 1423-0356 (Online) For additional information: Abstract A 49-year-old woman was admitted to the hospital for hypercapnia [karger.com]

    Bilateral diaphragmaticweakness remains rare, and the cause is often notestablished.5 This case study reports a patient who pre-sented with type 2 respiratory failure (insufcient ex-cretion of carbon dioxide causing hypercapnia andacidosis) secondary [myslide.es]

    These include the presence of symptoms of sleep-disordered breathing, daytime hypercapnia 45 mmHg, hypoxemia during sleep, FVC of less than 40%–60% (depending on the diagnosis) or rapid decline in FVC, and low sniff nasal pressure. [dovepress.com]

This can lead to inappropriate counseling and treatment. [ncbi.nlm.nih.gov]

“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]

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]

[…] 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]

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]

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]

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]

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

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]

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]

東京都立小児総合医療センター神経内科 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]

[…] and 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]

Nemaline Myopathy Pathophysiology It results from the abnormal accumulation of the nemaline rods in muscle fibres, disturbing the sarcomere function. [primehealthchannel.com]

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]