A less common presentation of CNM occurs with autosomal dominant or recessive inheritance, presenting with mild weakness and hypotonia, which may be unrecognizable in infants. [rarediseases.org]

[…] moderate short stature (often treatment with synthetic growth hormone), with a triangular broad chest and widely spread nipples - dysmorphism: ptosis, low set ears, high arched palate, short neck with pterygium colli (sequelae of the cervical hygroma present [sites.uclouvain.be]

Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. [ncbi.nlm.nih.gov]

• Constitutional Symptom

  ORPHA:423 Dubowitz Syndrome Hypocholesterolemia OMIM:223370 Overlap Myositis Constitutional symptom, Limb pain, Perifascicular muscle fiber atrophy, Distal lower limb muscle ... [mousephenotype.org]

• Episodic Weakness

  Episodic Weakness 464 Case 73B An African American Man with Hyperthyroidism and Acute Paralysis 470 Case 74 A Boy with Large Muscles Leg Pain and Elevated Serum Creatine Kinase 472 Case 75 A Woman with Proximal Muscle Weakness Calf Hypertrophy Heel Contractures [books.google.com]

• Short Neck

  Association of: - moderate short stature (often treatment with synthetic growth hormone), with a triangular broad chest and widely spread nipples - dysmorphism: ptosis, low set ears, high arched palate, short neck with pterygium colli (sequelae of the [sites.uclouvain.be]

• Quadriplegia

  Cerebral palsy and other paralytic syndromes not meeting severity criteria on List A Cerebral palsy Diplegia Hemiplegia Monoplegia Paraplegia Quadriplegia Tetraplegia. [ourguidelines.ndis.gov.au]

• Monoplegia

  Cerebral palsy and other paralytic syndromes not meeting severity criteria on List A Cerebral palsy Diplegia Hemiplegia Monoplegia Paraplegia Quadriplegia Tetraplegia. [ourguidelines.ndis.gov.au]

Such a presentation requires a persistent medical workup and treatment of reversible causes before surgical intervention is contemplated. [thieme-connect.com]

This hypothesis is supported by the coexistence of nemaline rods and polymyositis14 and by the finding of both disorders in patients with human immunodeficiency virus infection.11 Despite an extensive workup, no evidence of altered immunity was present [the-medical-dictionary.com]

Association of: - moderate short stature (often treatment with synthetic growth hormone), with a triangular broad chest and widely spread nipples - dysmorphism: ptosis, low set ears, high arched palate, short neck with pterygium colli (sequelae of the [sites.uclouvain.be]

“Perhaps the treatment used here for this disease might work for others,” he added. [journals.lww.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]

These is insufficient scientific evidence of the effectiveness of these treatments. [ncbi.nlm.nih.gov]

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]

[…] monoclonal gammopathy are clues for the diagnosis of sporadic late onset nemaline myopathy. 2) The diagnosis is confirmed by visualizing the rods in trichrome or immunostained cryosections. 3) An associated monoclonal gammopathy heralds an unfavorable prognosis [unboundmedicine.com]

The monoclonal gammopathy of unknown significance ( MGUS ) associated with a worse prognosis also argues for an immune disorder. On electron microscopy, nemaline bodies within the affected muscle fibers may be found. [en.wikipedia.org]

Monoclonal gammopathy and paresthesiae may be a marker of poor prognosis. Genetic counseling Adult onset NM is usually sporadic and no familial history of neuromuscular diseases is found. Last updated: 10/10/2011 [rarediseases.info.nih.gov]

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]

We highlight the severe neonatal forms (nemaline, X-linked myotubular) to be identified early to establish prognosis and provide appropriate genetic counseling. [ncbi.nlm.nih.gov]

Etiology uncertain. Bibliography F. E. Batten: Three cases of myopathy, infantile type. Brain, Oxford, 1903, 26: 147-148. J. W. Turner: On amyotonia congenita. Brain, Oxford, 1949, 72: 25-34. [whonamedit.com]

Idiopathic adult-onset nemaline myopathy is a rare condition of unknown etiology that usually presents with proximal weakness. [ncbi.nlm.nih.gov]

Pathophysiology [ edit ] The etiology is unknown. [5] Some cases of SLONM have been comorbid with HIV infection, and others with immune disorders, and so both a viral trigger and an autoimmune disorder have been considered candidate etiologies. [en.wikipedia.org]

BACKGROUND Non-HIV-related SLONM is an uncommon disease of undefined etiology. [unboundmedicine.com]

In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A. [books.google.com]

Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Adult-onset NM represents Clinical description Adult onset NM occurs sporadically between 20 and 50 years of age. [rarediseases.info.nih.gov]

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]

＜多発性硬化症の疫学＞：Epidemiology of Multiple Sclerosis医学のあゆみ【免疫性神経疾患-病態解明と治療の最前線】、255巻5号 Page353-356, 2015. 田中章浩，山野光彦，辻貞俊．高齢者てんかんの特徴と治療．最新医学70: 1061-1065, 2015. 森井芙貴子，水野敏樹, 中川正法, 井上治久. iPS細胞を用いた神経変性疾患病態解析.脳神経系の発生・再生の融合的新展開 4 章 Page2-6, 2015. 向井麻央，水野敏樹. [neurology-kpum.com]

Emphasis has been placed on the diagnosis and management of these disorders rather than on their pathophysiology. [books.google.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]

Pathophysiology [ edit ] The etiology is unknown. [5] Some cases of SLONM have been comorbid with HIV infection, and others with immune disorders, and so both a viral trigger and an autoimmune disorder have been considered candidate etiologies. [en.wikipedia.org]

[…] 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]

New York, NY 10022-1202 (800) 829-0500 Prevent Blindness America 500 East Remington Road Schaumburg, IL 60173-5611 (800) 331-2020 Research to Prevent Blindness 645 Madison Ave. 21st Floor New York, NY 10022-1010 (212) 752-4333 (800) 621-0026 (outside [neuromuscular.wustl.edu]

Physiotherapy is frequently used for those suffering with Nemaline Myopathy to facilitate maintenance of muscle strength and joint range of movement, whilst working to prevent scoliosis (curvature of the spine) and muscle tightness. [manchesterneurophysio.co.uk]

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]

Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. [ncbi.nlm.nih.gov]