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]

Although some patients did not reach adult age, we present here a case who had several episodes of respiratory insufficiency but reached age 50 with very thin body bulk and, at difference with other cases, presented extraocular muscle involvement. [link.springer.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]

[…] failure and, in many cases, early mortality), to milder forms characterized by slowly progressive weakness or asymptomatic presentations. [centrodinoferrari.com]

• Weakness

  Symptoms - Nemaline Myopathy 2 Breathing problems Reduced muscle tone at birth Limb weakness Trunk weakness Weak face muscles Respiratory muscle weakness Weak neck muscles Reduced or absent deep tendon reflexes Absent gag reflex Delayed motor development [checkorphan.org]

  The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running [diseaseinfosearch.org]

  This disorder is characterized by muscle weakness and the presence of rod-shaped structures (nemaline bodies or rods) in affected muscle fibers. [sema4genomics.com]

  […] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

  Muscle disorders can cause weakness, pain or even paralysis. [icdlist.com]

• Pain

  Muscle disorders can cause weakness, pain or even paralysis. [icdlist.com]

  Symptoms can range from mild cramps to more-severe myalgias, pain, and weakness. Rhabdomyolosis has also been reported in rare cases. [clevelandclinicmeded.com]

  Muscle pain (myalgia) may also occur. Involvement of certain neck muscles may make it difficult to hold one’s head up and cause the head to drop. [rarediseases.org]

  Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain. 2014;137(Pt 6):1627–42. View Article PubMed Google Scholar Lassuthova P, Mazanec R, Vondracek P, Siskova D, Haberlova J, Sabova J, Seeman P. [ojrd.biomedcentral.com]

• Arachnodactyly

  Syndrome Type 3 AD,AR 99.98 127 of 128 ERGIC1 Neurogenic Arthrogryposis Multiplex Congenita AR 100 2 of 2 EXOSC3 Pontocerebellar Hypoplasia Type 1b AR 100 19 of 20 FAM20C Lethal Osteosclerotic Bone Dysplasia AR 97.8 29 of 29 FBN2 Congenital Contractural Arachnodactyly [igenomix.es]

• Respiratory Insufficiency

  Most patients were characterized by similar clinical features, such as high-arched palate, long fingers, elongated myopathic face, chest deformity, dysphagia, respiratory insufficiency, and bulbar muscle weakness. [link.springer.com]

  Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. [diseaseinfosearch.org]

  Nemaline Myopathy is a condition characterized by proximal muscle weakness, delayed motor milestones and occasionally respiratory insufficiency and feeding problems (Sewry, Laitila, and Wallgren-Pettersson 2019). [childrenshospital.org]

  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]

• Hypotension

  Upon admission to ICU, hypotension and respiratory acidosis were detected and orotracheal intubation and mechanical ventilation initiated. [jnnp.bmj.com]

• Myopathy

  6 57 Lehtokari VL...Wallgren-Pettersson C 25205138 2014 4 Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. 6 57 Yonath H...Pras E 22367672 2012 5 Core-rod myopathy caused [malacards.org]

  Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. [pubmed.ncbi.nlm.nih.gov]

  Prognosis - Nemaline Myopathy 2 Not supplied. Treatment - Nemaline Myopathy 2 Not supplied. Resources - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

  Congenital myopathies. Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co; 1995. 211-46. Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. [medscape.com]

  Includes nemaline myopathy with excess thin filaments/actin aggregates; nemaline myopathy with cores; nemaline myopathy with intranuclear rods; and Amish nemaline myopathy. 1.2 OMIM# of the disease NEM1 - 609284; NEM2 - 256030; NEM3 - 161800; NEM4 - 609285 [nature.com]

• Muscle Weakness

  The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running [diseaseinfosearch.org]

  Symptoms - Nemaline Myopathy 2 Breathing problems Reduced muscle tone at birth Limb weakness Trunk weakness Weak face muscles Respiratory muscle weakness Weak neck muscles Reduced or absent deep tendon reflexes Absent gag reflex Delayed motor development [checkorphan.org]

  People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).In X-linked myotubular myopathy, muscle weakness often disrupts [icdlist.com]

  The major clinical features of nemaline myopathy are muscle weakness, hypotonia and reduced or absent reflexes. Muscle weakness is usually most severe in muscles of the face, neck and proximal muscles. [rarediseases.org]

  Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in ≤50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy [clevelandclinicmeded.com]

• Chest Deformity

  Most patients were characterized by similar clinical features, such as high-arched palate, long fingers, elongated myopathic face, chest deformity, dysphagia, respiratory insufficiency, and bulbar muscle weakness. [link.springer.com]

  Patients may also exhibit dysphagia, respiratory insufficiency, foot deformities, arch palate, scoliosis, chest deformities and superior and inferior limbs contractures 1-7. [scielo.br]

• Lordosis

  Scoliosis and lordosis pose technical difficulties with regard to regional anesthesia. Post delivery, women with nemaline myopathy need social support systems for mobilization and care of newborn. [neurologyindia.com]

• Myopathic Facies

  Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. [diseaseinfosearch.org]

  Examination showed generalized hypotonia, calf hypertophy, myopathic facies, high arched palate, weakness of face and neck muscles. The CPK level was 218U/L and electromyographic (EMG) showed myopathic changes. [neurologyindia.com]

• 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]

• Waddling Gait

  gait Throat weakness Causes - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

  Examination revealed waddling gait, generalized hypotonia of all four limbs and calf hypertrophy. The CPK level was 75U/L and EMG revealed myopathic changes. Echocardiography showed no abnormality. [neurologyindia.com]

• Facial Muscle Weakness

  […] lack of affected family members4,8-10 or preceding symptoms.4 Later, dyspnea, dysphagia, and mild facial muscle weakness have been observed8 as seen in our patient, 18 months after symptom onset. [jamanetwork.com]

• Hyporeflexia

  Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes (hyporeflexia), and a high-arched palate, along with electron-dense aggregates, called nemaline rods, being observed at the microscopic level within [en.wikipedia.org]

• Areflexia

  People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).In X-linked myotubular myopathy, muscle weakness often disrupts [icdlist.com]

• Asthenia

  用 語 対 訳 Naughton['s] protocol ノートンの[トレッドミル]プロトコール nausea 吐き気 NAV (number of averages) 励磁回数 navigator echo 航磁エコー、ナビゲーターエコー NBTE (nonbacterial thrombotic endocarditis) 非細菌性血栓性心内膜炎 NCA (neurocirculatory asthenia) 神経循環無力症 NCRP (National Council on Radiation [j-circ.or.jp]

We conclude from this study that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs. [institut-myologie.org]

She was wheelchair-bound when she presented for antenatal workup. On examination she had an elongated face with high arched palate, bilateral lower motor seventh and eleventh nerve palsies. [neurologyindia.com]

Our mission is to find treatments for Nemaline Myopathy. [buildingstrength.org]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.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]

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 2 Not supplied. Treatment - Nemaline Myopathy 2 Not supplied. Resources - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

The 3 most common types of congenital myopathy, in order, are Central core and multiminicore myopathies (core myopathies) Centronuclear myopathy Nemaline myopathy The types are distinguished primarily by their histologic features, symptoms, and prognosis [msdmanuals.com]

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

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

Pathology by systems > Locomotory system > Muscles > nemaline myopathies Synopsis nemaline myopathy nemaline cardiomyopathy Associations radiotherapy ( 14506646 ) Etiology NEM1: autosomal dominant nemaline myopathy (NEM1) (MIM.161800) - mutations in the [humpath.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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]

Relevant External Links for NEB Genetic Association Database (GAD) NEB Human Genome Epidemiology (HuGE) Navigator NEB Atlas of Genetics and Cytogenetics in Oncology and Haematology: NEB No data available for Genatlas for NEB Gene Mutations in the nebulin [genecards.org]

Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions. [ojrd.biomedcentral.com]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female > male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.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]

[…] 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]

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

Prevention - Nemaline Myopathy 2 Not supplied. [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]