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]

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]

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]

The most common type of nemaline rod myopathy presents in the infantile stage with 42% of patients presenting in the neonatal period. [6] While there has been an association with polyhydramnios, decreased fetal movements, and an abnormal fetal presentation [emedicine.medscape.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]

• 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]

• Waddling Gait

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

  Examination revealed waddling gait, generalized hypotonia of all four limbs and calf hypertrophy. The CPK level was 75U/L and EMG revealed myopathic changes. Echocardiography showed no abnormality. [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]

• 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]

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]

Our mission is to find treatments for Nemaline Myopathy. [buildingstrength.org]

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]

Management and treatment A multidisciplinary approach is needed to handle respiratory insufficiency (permanent or intermittent use of mechanical ventilation and treatment of lower respiratory tract infections) and feeding difficulties (feeding techniques [orpha.net]

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]

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

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]

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 [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]

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]

[…] 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]

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

ACTA1), 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]