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Autosomal Recessive Centronuclear Myopathy 5

AR-CNM


Presentation

  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.com]
  • The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM).[spandidos-publications.com]
  • Micrognathia is one of several dysmorphic features that may be present in these patients. Serum creatine kinase concentrations usually are normal.[anesthesiology.pubs.asahq.org]
  • Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.[en.wikipedia.org]
  • He presented facial diplegia (figure, B), ptosis, vertical ophthalmoparesis, dysphonia, and dysarthria, without dysphagia.[neurology.org]
Weakness
  • AFFECTED (those having 2 copies of the mutation and will likely begin to show weight loss, muscle weakness and exercise intolerance after a few months of age.[vetdnacenter.com]
  • […] these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Axial muscle weakness 0003327 Distal muscle weakness Weakness of outermost muscles 0002460 EMG: myopathic abnormalities 0003458 Facial palsy Bell's palsy 0010628 Feeding[rarediseases.info.nih.gov]
  • Myotubular myopathy causes muscle weakness and hypotonia (lack of muscle tone) noticeable at birth. The weakness and hypotonia interfere with posture and movement, and can cause life-threatening difficulties with feeding and respiration.[mda.org]
  • Major clinical symptoms for NEM include the following 1 : Muscle weakness of face, neck and trunk and upper arms and legs (proximal muscle weakness) Hypotonia Decreased or absent deep tendon reflexes Feeding and swallowing difficulties Breathing difficulties[centogene.com]
  • This is often not life threatening and mainly deals with weakness of muscles. It is advised to meet with a genetic counselor to discuss the condition.[diseaseinfosearch.org]
Weight Loss
  • AFFECTED (those having 2 copies of the mutation and will likely begin to show weight loss, muscle weakness and exercise intolerance after a few months of age.[vetdnacenter.com]
Crying
  • Other early symptoms indicating poor muscle tone and muscular weakness are a lack of spontaneous movement, inability to balance the head and a weak cry. The child often feels “floppy” and slack when lifted or carried.[socialstyrelsen.se]
Congestive Heart Failure
  • PubMed Google Scholar Gospe SM, Armstrong DL, Gresik MV, Hawkins HK: Life-threatening congestive heart failure as the presentation of centronuclear myopathy. Pediatr Neurol. 1987, 3: 117-120. 10.1016/0887-8994(87)90040-3.[ojrd.biomedcentral.com]
Failure to Thrive
  • Growth parameters Weight for age NA Y N Decreased body weight ( NA Y N Increased body weight ( 2SD) Stature for age NA Y N Short stature ( NA Y N Tall stature ( 2SD) Head circumference for age NA Y N Microcephaly ( NA Y N Macrocephaly ( 2SD) NA Y N Failure[playground.phenotips.org]
Muscular Atrophy
  • . : «Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24-31». Hum. Mol.[jmunozy.org]
  • atrophy Seconardy nemaline myopathies, including mitochondrtial myopathy, dermatomyositis, myotonic dystrophy type 1, and Hodgkin’s disease, and in normal human extraocular muscle To confirm/establish the diagnosis, CENTOGENE offers the following testing[centogene.com]
  • Clinically, it is sometimes difficult to distinguish a congenital myopathy from spinal muscular atrophy or congenital myotonic dystrophy solely based upon clinical features.[neurologyindia.com]
  • […] salla-diseaseSLC17A55 sandhoff-diseaseHEXB3 sanfilippo-syndromeSGSH;NAGLU;HGSNAT;GNS39 scid-x-linkedIL2RG11 short-chain-acyl-coa-dehydrogenase-deficiencyACADS5 sickle-cell-anemiaHBB1 sjogren-larsson-syndromeALDH3A22 smith-lemli-opitz-syndromeDHCR721 spinal-muscular-atrophy-smn1[genlives.com]
  • atrophy-3 253400 600354 Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-2 253550 600354 Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-1 253300 600354 Autosomal recessive SMN1 5q13.2 Spinal muscular atrophy-4 271150 600354 Autosomal[mnglabs.com]
Urinary Incontinence
  • Urinary incontinence, primary or secondary, may be an additional feature indicating smooth muscle involvement [ 33, 37 ].[ojrd.biomedcentral.com]
Areflexia
  • Respiratory impairment 0002093 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Waddling gait 'Waddling' gait Waddling walk [ more ] 0002515 5%-29% of people have these symptoms Abnormal heart valve morphology 0001654 Areflexia[rarediseases.info.nih.gov]
  • […] myopathy FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss KBTBD13 nemaline myopathy-6 KLHL40 nemaline myopathy-8 KLHL41 nemaline myopathy-9 LMOD3 nemaline myopathy-10 MEGF10 early-onset myopathy with minicores, areflexia[invitae.com]
  • Chromosome 5q14.3 deletion syndrome 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia[mnglabs.com]
Clumsiness

Workup

  • Diagnostic workup is often coordinated by a treating neurologist. In the United States, care is often coordinated through clinics affiliated with the Muscular Dystrophy Association.[en.wikipedia.org]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Researchers are building on this knowledge to deepen their understanding of centronuclear myopathies and to find effective treatments. See Research.[mda.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • A habilitation team offers support and treatment within the medical, educational, psychological, social and technical fields. Help includes assessment, treatment, the provision of aids, information on the specific disability, and counselling.[socialstyrelsen.se]
  • Treatment [ edit ] Currently there is no cure for myotubular or centronuclear myopathies.[en.wikipedia.org]

Prognosis

  • Prognosis is often determined by respiratory, orthopedic, and bulbar involvement. Over the past decade, a number of causative genes have been identified for congenital myopathies.[neurologyindia.com]
  • In recent years, MDA-supported scientists have learned that centronuclear myopathies encompass a larger group of diseases than just X-linked myotubular myopathy, and that these types often have a better prognosis than the X-linked type.[mda.org]
  • In the absence of severe cardiorespiratory involvement, the prognosis appears favourable.[ojrd.biomedcentral.com]
  • In the X-linked form of centronuclear myopathy, information on the type of genetic mutation can help in giving a prognosis although there may be significant variations between children with the same type of mutation.[socialstyrelsen.se]
  • Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 1987;29:815-20. 7 Laing NG, Majda BT, Akkari PA, et al.[zdoc.site]

Epidemiology

  • Institute of Biomedicine/Physiology University of Helsinki Helsinki Finland Department of Neurology University of Erlangen-Nuremberg Erlangen Germany 关键词: MUSCLES -- Diseases DISEASES -- Causes & theories of causation RESPIRATORY insufficiency DIAGNOSIS EPIDEMIOLOGY[lib.nbu.edu.cn]
  • Epidemiology [ edit ] The overall incidence of myotubular myopathy is 1 in 50,000 male live births. [4] The incidence of other centronuclear myopathies is extremely rare, with there only being nineteen families identified with CNM throughout the world[en.wikipedia.org]
  • Epidemiology Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions.[ojrd.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Research is increasingly showing that these two conditions also share several pathophysiological mechanisms, including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of[books.google.com]

Prevention

  • 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]
  • Dystrophin prevents the membrane that lines the muscle fiber (plasmalemma) from tearing when the muscle contracts. In DMD patients, very little dystrophin or dystrophin-like proteins exist.[healthcommunities.com]
  • Medical management generally involves efforts to prevent pulmonary complications, since lung infections can be fatal in patients lacking the muscle strength necessary to clear secretions via coughing.[en.wikipedia.org]
  • A physiotherapist can give advice and instructions on different exercises to prevent stiffness recurring. A spinal brace can stabilise the trunk and counteract scoliosis (curvature of the spine).[socialstyrelsen.se]

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