Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Although some patients did not reach adult age, we present here a case who had several episodes of respiratory insufficiency but reached age 50 with very thin body bulk and, at difference with other cases, presented extraocular muscle involvement. [link.springer.com]

Most episodes presented after feeding and were aborted by stimulation. Upon admission to ICU, hypotension and respiratory acidosis were detected and orotracheal intubation and mechanical ventilation initiated. [jnnp.bmj.com]

TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) 100%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) 100%. 2.3 Clinical Sensitivity (proportion of positive [nature.com]

• Difficulty Running

  The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running [diseaseinfosearch.org]

• Fishing

  You’re spelling words, “cat, dog, fish, Ethan…” and trying to mimic us when we speak. You’re learning to speak through an AAC app and learning more sign language words than I can count. (We suspect you’re creeping up to 100 words!) [themighty.com]

• Chest Deformity

  Most patients were characterized by similar clinical features, such as high-arched palate, long fingers, elongated myopathic face, chest deformity, dysphagia, respiratory insufficiency, and bulbar muscle weakness. [link.springer.com]

  Patients may also exhibit dysphagia, respiratory insufficiency, foot deformities, arch palate, scoliosis, chest deformities and superior and inferior limbs contractures 1-7. [scielo.br]

• Muscle Contracture

  contractures, most probably because of the hypercontractility caused by the mutant protein in nemaline myopathy and/or core-rod myopathy patients. 21 TNNT1 : a recessive nonsense founder variant is present in the Old Order Amish population. [nature.com]

• Lordosis

  Scoliosis and lordosis pose technical difficulties with regard to regional anesthesia. Post delivery, women with nemaline myopathy need social support systems for mobilization and care of newborn. [neurologyindia.com]

• Hyporeflexia

  Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes (hyporeflexia), and a high-arched palate, along with electron-dense aggregates, called nemaline rods, being observed at the microscopic level within [en.wikipedia.org]

• Waddling Gait

  gait Throat weakness Causes - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

• Areflexia

  People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).In X-linked myotubular myopathy, muscle weakness often disrupts [icdlist.com]

• Dysphasia

  After treatment with pyridostigmine, prednisome, and azathioprine, dysphasia, dysarthria, and ptosis were mildly alleviated. Recently, the patient presented exacerbating weakness in proximal muscles of the limbs with obvious muscle fasciculation. [journals.lww.com]

• Forgetful

  I’ll never forget the moment your doctor and team brought us into this little, windowless room off the PICU. The picture they painted of your future felt bleak. [themighty.com]

We conclude from this study that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs. [institut-myologie.org]

She was wheelchair-bound when she presented for antenatal workup. On examination she had an elongated face with high arched palate, bilateral lower motor seventh and eleventh nerve palsies. [neurologyindia.com]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Understanding its chains that lead into functional proteins does help the researchers to develop and understand the causes of disease and the treatment that may be done through drugs. [sciencetimes.com]

Treatment - Nemaline Myopathy 2 Not supplied. Resources - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

Prognosis - Nemaline Myopathy 2 Not supplied. Treatment - Nemaline Myopathy 2 Not supplied. Resources - Nemaline Myopathy 2 Not supplied. [checkorphan.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]

The 3 most common types of congenital myopathy, in order, are Central core and multiminicore myopathies (core myopathies) Centronuclear myopathy Nemaline myopathy The types are distinguished primarily by their histologic features, symptoms, and prognosis [msdmanuals.com]

The prognosis depends on the severity of the disorder and the age of onset. [primehealthchannel.com]

[…] nemaline myopathy has been described either as an isolated entity or as concomitance in association with virus infections or autoimmune diseases. 4 Therefore, we speculate that adult-onset nemaline myopathy may be caused by abnormally immunological etiology [journals.lww.com]

Pathology by systems Locomotory system Muscles nemaline myopathies Synopsis nemaline myopathy nemaline cardiomyopathy Associations radiotherapy ( 14506646 ) Etiology NEM1: autosomal dominant nemaline myopathy (NEM1) (MIM.161800) - mutations in the tropomyosin [humpath.com]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Relevant External Links for NEB Genetic Association Database (GAD) NEB Human Genome Epidemiology (HuGE) Navigator NEB Atlas of Genetics and Cytogenetics in Oncology and Haematology: NEB No data available for Genatlas for NEB Gene Mutations in the nebulin [genecards.org]

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]

Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions. [ojrd.biomedcentral.com]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.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]

[…] 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]

- 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]

[…] nebulin ( NEB ), β-tropomyosin ( TPM2 ), and troponin T1 ( TNNT1 ). 4 Although additional genes associated with nemaline myopathy remain to be identified, some cases likely involve nemaline body formation as a nonspecific or secondary response to local pathophysiological [jamanetwork.com]

Prevention - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

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]