Definition / general One of the most common non dystrophic congenital myopathies, with a heterogeneous clinical presentation and characteristic rod-like inclusions (nemaline bodies) within myofibers Essential features Skeletal muscle with red to purple [pathologyoutlines.com]

Presentation is in childhood or adolescence usually with malignant hyperthermia. Non-progressive mild proximal weakness may be present. [emedicine.medscape.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]

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

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]

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]

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]

Fetal NM is a severe form of NM that carries a poor prognosis. [frontiersin.org]

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]

18:230) Cardiac and extraocular muscles are typically spared Pathophysiology Congenital forms caused by mutations involving the thin filament of the sarcomere and cause contractile dysfunction, leading to muscle weakness (J Neuromuscul Dis 2017;4:99) Etiology [pathologyoutlines.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]

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]

[…] 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 ICD coding ICD-10: G71.2 - congenital myopathies Epidemiology [pathologyoutlines.com]

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

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]

Such therapy is aimed at preserving muscle strength and function and to prevent the development of contractures. In addition, respiratory support may be necessary, potentially including mechanical ventilation to prevent nocturnal hypoventilation. [rarediseases.org]

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]