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]

Dilated cardiomyopathy was present in 11% of patients. [ojrd.biomedcentral.com]

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]

Nemaline myopathy has been described in various forms, the most severe of which presents at birth with marked weakness and hypotonia of the systemic musculature. [healio.com]

Documentation: A patient with congenital nemaline myopathy may present at any age with clinical findings associated with the severity of muscle disease. [meducator3.net]

• Anger

  Angers, France (5) Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany (6) Institute of Neuropathology, University Hospital Zürich, Zürich, Switzerland (7) Department of Neurology, University Hospitals Leuven, Leuven, [ojrd.biomedcentral.com]

Look out for: scoliosis, kyphosis, cronic ear infections (tubes often needed) Recommended: annual sleep study, swallow study/study of aspiration, nutritionist workup, cranial/facial follow-up, endocrine work-up, baseline cardiologist work-up and follow-up [nemaline.org]

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

Chest physical therapy, antibiotics, inhalation treatments, and enriched diets are few of many treatment options. Return to the top of this page. [kveller.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]

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 6 Not supplied. Treatment - Nemaline myopathy 6 Not supplied. Resources - Nemaline myopathy 6 Not supplied. [checkorphan.org]

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

Three of these patients displayed rapid clinical progression and acute respiratory insufficiency, while their prognosis was poor. [spandidos-publications.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]

Nemaline rods are seen as a minor feature of muscle biopsies in a variety of neuromuscular disorders 10 and rarely even in normal muscle. 8 Nemaline myopathy is diagnosed when nemaline rods are the predominant finding 8 and features of other etiologies [jamanetwork.com]

Nemaline Myopathy Causes The exact etiology of this condition is still not known. Researchers have shown certain genetic mutations to be responsible for its occurrence. [primehealthchannel.com]

As such, consideration for the specific etiology is needed. Additionally, many infants/neonates with congenital myopathy can make improvements in the first few years of life. [emedicine.medscape.com]

Epidemiological rarity and nosographic controversy of CM have contributed to this lack of molecular genetic progress in CM. View full text Copyright © 1996 Published by Elsevier Inc. [sciencedirect.com]

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]

This is expected to increase insight in the role of the KBTBD13 gene in the pathophysiology of this myopathy. [healthacademy.radboudumc.nl]

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]

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

[…] 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]

Difficulty jumping Difficulty lifting above the head Causes - Nemaline myopathy 6 Difficulty climbing stairs - see all causes of Leg weakness Difficulty running - see all causes of Walking symptoms Muscle stiffness - see all causes of Muscle stiffness Prevention [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]

The mission of the Victor Center for the Prevention of Jewish Genetic Diseases is to ensure babies are born free of life-threatening and preventable Jewish genetic diseases. [kveller.com]