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]

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]

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]

• Arachnodactyly

  Initial examination in the neonatal nursery revealed a flaccid infant with severe hypotonia, absence of deep tendon reflexes, extremity contractions, high arched palate, long thin face, and arachnodactyly. [healio.com]

  Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly. [chginc.org]

• Infertility

  Men with Bloom Syndrome are usually infertile, and fertility appears to be reduced in women. Some individuals with Bloom syndrome also have mental retardation. These individuals usually die at an early age, but some have survived until their 40s. [kveller.com]

  This assay should be performed in conjunction with routine chromosome studies for evaluation of male infertility. [chginc.org]

• Difficulty Climbing Stairs

  climbing stairs 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 [checkorphan.org]

• Difficulty Running

  running Difficulty climbing stairs 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 [checkorphan.org]

• Orthopnea

  […] modest increase of muscle strength for 6 months [ 57 ] posterior cervical orthodesis R: improved head drop, minimal rotatory restriction [ 13 ] a steroids   cyclophosphamide   IVIg   rituximab NR: died 21 m after onset [ 6 ] NIV condition stabilized, orthopnea [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]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

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

Treatment in patients with SLONM (Tables 1 and 2 ) Table 2 Treatment and outcome in patients with SLONM (novel patients P1-10 and literature data) P 1 a steroids   NIV R: improvement of limb and respiratory strength P 2 NA NA P 3 analgetics   physiotherapy [ojrd.biomedcentral.com]

Read More News on LEMS Treatment and Research In Lambert-Eaton myasthenic syndrome (LEMS), the immune system attacks the connection between nerve and muscle — the neuromuscular junction — and interferes with the ability of nerve cells to send signals [quest.mda.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]

Prognosis - Nemaline myopathy 6 Not supplied. Treatment - Nemaline myopathy 6 Not supplied. Resources - Nemaline myopathy 6 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 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]

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]

[…] 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]