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]

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

Within families, there can be considerable variation with respect to disease presentation and degree of muscle involvement. The serum creatine kinase (CK) levels are either normal or usually mildly elevated. [neurology.mhmedical.com]

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]

• Hemophilia A

  Gastrointestinal Stromal Tumors Life Raft Group Glycogen Storage Disease Association for Glycogen Storage Disease International Advocate for Glycoprotein Storage Diseases Guillain-Barré syndrome GBS/CIDP Foundation International H Hemophilia Hemophilia [smithfamilyclinic.org]

• Amyloidosis

  AL amyloidosis, the most common form of systemic amyloidosis in the US, is characterized by multiple organ involvement and a median survival of one year with no treatment. [journals.lww.com]

  ALS Association Amyloidosis Amyloidosis Support Groups, Inc Aplastic Anemia Aplastic Anemia & MDS International Foundation, Inc. [smithfamilyclinic.org]

  Broad-betalipoproteinemia Bromidrosiphobia Bronchiectasis Bronchiectasis oligospermia Bronchiolitis obliterans with obstructive pulmonary disease Bronchiolotis obliterans organizing pneumonia (BOOP) Bronchitis, Chronic Bronchogenic cyst Bronchopulmonary amyloidosis [bionity.com]

  PBSCT in SLONM-MG was recently reported tobe limited because of a mortality rate of 13%,8 but thisrate was reported from patients with AL amyloidosis, adiffuse, multiple-organ disorder. [docslide.com.br]

  […] cutaneous amyloidosis (PLCA) は慢性の敏感肌症で表皮におけるアミロイド沈着が関わっている。 [kegg.jp]

• Anemia

  In order to get this diagnosis, you need to have two of three indicators;… Continue reading I am my own Pituitary Gland Read full story Aplastic anemia fighter I am a fourth year medical student being treated for aplastic anemia. [rarediseaseday.org]

  ALS Association Amyloidosis Amyloidosis Support Groups, Inc Aplastic Anemia Aplastic Anemia & MDS International Foundation, Inc. [smithfamilyclinic.org]

  Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification Berylliosis Bes-Bet Besnier-Boeck-Schaumann disease Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia [bionity.com]

  Treatment of pernicious anemia by a special diet. JAMA 1926; 87:470-476. See also: http://www.nobelprize.org/nobel_prizes/medicine/laureates/1934/murphy-lecture.html https://doi.org/10.1001/jama.1926.02680070016005 Steinert H. [acnr.co.uk]

  ORPHA:169189 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To Myopathy OMIM:230450 Mitochondrial Myopathy, Lethal, Infantile Myopathy OMIM:551000 Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency Fatty [mousephenotype.org]

• Lymphedema

  […] 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 in utero in the X0 forms), micrognathia, - lymphedema [sites.uclouvain.be]

  Lymphatic Malformations Liam’s Land Lymphedema National Lymphedema Network Lysosomal Acid Lipase Deficiency LAL Solace, Inc M Macrocephaly-Capillary Malformation M-CM Network Madelung’s Disease Fat Disorders Research Society, Inc Marfan Syndrome National [smithfamilyclinic.org]

• Hypercapnic Respiratory Failure

  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]

• Foot Deformity

  Surgical Care might be essential for contractures, foot deformities and scoliosis in some severely affected cases. Gastrostomy tube is sometimes needed for newborns with feeding difficulties. [physio-pedia.com]

  Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine ( scoliosis ), and joint deformities (contractures). [rwtraining.net]

  Other features include scoliosis, dislocated hip joints, foot deformities, and a high-arched palate. Symptoms tend to improve with age. [accessanesthesiology.mhmedical.com]

  Deformities 510 Case 81 A Woman with Droopy Eyelids and Ophthalmoplegia 515 Case 82 A Man with Weakness and Swelling in the Neck 522 Case 83 A Woman with Muscle Pains and Dark Urine 526 Case 84 A Woman with Progressive Proximal Muscle Weakness 533 Case [books.google.com]

  Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). [icdlist.com]

• Torticollis

  National Spasmodic Torticollis Association Spastic Paraplegia Spastic Paraplegia Foundation Spinal Muscular Atrophy Children with Spinal Muscular Atrophy Ukraine Cure SMA Families of Spinal Muscular Atrophy Succinic Semialdehyde Dehydrogenase Deficiency [smithfamilyclinic.org]

  OMIM:500002 Bethlem Myopathy 1 Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... [mousephenotype.org]

  Initial surgical intervention consisted of C1 – C2 internal fixation, but the patient sustained a vertebral artery injury and continued to experience painful spasmodic anterocollis and torticollis. [thieme-connect.com]

  Simpson Golabi Behmel Syndrome Sjorgren's Syndrome Sjorgren-Larsson Syndrome Skeletal Dysplasia SLC29A3 Spectrum Disorder Smith Magenis Syndrome (SMS) Smith-Lemli-Opitz Syndrome SNX27 (Sorting nexin family member 27) mutations Sotos Syndrome Spasmodic Torticollis [geneticalliance.org.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]

• Ventricular Hypertrophy

  ventricular hypertrophy, Calf muscle ... [mousephenotype.org]

Treatment for all types of congenital myopathy involves managing your child’s symptoms. These treatments should include: Orthopedic treatment, if needed. Physical therapy. Occupational therapy. Speech therapy. [my.clevelandclinic.org]

The treatment of muscle weakness revolves around stretching, bracing, and supportive care. [physio-pedia.com]

“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]

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]

[…] 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]

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]

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]

Outlook / Prognosis What can I expect if my child has congenital myopathy? The prognosis for congenital myopathy varies greatly depending on the type and severity of your child’s condition. [my.clevelandclinic.org]

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

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]

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]

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]

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]

Background, Pathophysiology, Epidemiology. Medscape; 2019. Available from: https://emedicine.medscape.com/article/1175852-overview ↑ 10.0 10.1 10.2 10.3 10.4 10.5 Hubbard E. Congenital myopathy. POSNA: Pediatric orthopedic society of north America. [physio-pedia.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]

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

Symptoms can be present from birth, or they can slowly progress throughout the infancy and childhood. [7] [8] Pathophysiology[edit | edit source] There are twenty different genes that can be affected in congenital myopathy and the symptoms, of the disease [physio-pedia.com]

[…] 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]

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]

Prevention How can I reduce my risk of having a child with congenital myopathy? Because congenital myopathy is the result of a genetic change (mutation), the disorder can’t be prevented. [my.clevelandclinic.org]

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]

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]