Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. [ncbi.nlm.nih.gov]

This is usually the most severe form with profound muscle weakness (myopathy) and decreased muscle tone (hypotonia) present at birth. [treat-nmd.eu]

If the nucleus is present in the center than we confirm for the present of centronuclear myopathy. [wikiexclusive.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]

• Feeding Difficulties

  difficulties in infancy 0008872 Flexion contracture Flexed joint that cannot be straightened 0001371 Kyphosis Hunched back Round back [ more ] 0002808 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Onset Age symptoms begin 0003674 Proximal [rarediseases.info.nih.gov]

  "-13 The mild congenital or "classic" form of nemaline myopathy usually presents at birth or during the first year of life with hypotonia, weakness, and feeding difficulties; however, the severity of muscle involvement is often less marked than in the [zdoc.site]

  Feeding difficulties usually feature in infants with X-linked myotubular myopathy and may occur also in patients with severe recessive and dominant forms of CNM, requiring input from a speech therapist who may also promote normal speech if dysarthria [ojrd.biomedcentral.com]

• 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]

• Atrial Septal Defect

  septal defect NA Y N Ventricular septal defect NA Y N Complete atrioventricular canal defect NA Y N Coarctation of aorta NA Y N Tetralogy of Fallot NA Y N Cardiomyopathy NA Y N Arrhythmia Other Respiratory NA Y N Congenital diaphragmatic hernia NA Y [playground.phenotips.org]

• Delayed Speech Development

  speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

• Receding Chin

  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 Absent tendon reflexes 0001284 Bifid uvula [rarediseases.info.nih.gov]

• Muscle Weakness

  The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic loci in the AR form, genotype-phenotype correlations are poorly established. [ncbi.nlm.nih.gov]

  […] who have 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 [rarediseases.info.nih.gov]

  Muscle weakness is seen with variable severity and is usually prominently proximal. [medicbind.com]

  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]

• Proximal Muscle Weakness

  muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Ptosis Drooping upper eyelid 0000508 Scoliosis Abnormal curving of the spine 0002650 Showing of 47 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often [rarediseases.info.nih.gov]

  Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. [institut-myologie.org]

  There is usually weakness of the muscles closest to the trunk of the body, known as the proximal muscles. Weakness of the face muscles may occur, including droopiness of the eyelids and abnormalities of eye movements. [contact.org.uk]

  muscle weakness NA Y N Spondylometaphyseal dysplasia NA Y N Femoral bowing NA Y N Ovoid vertebral bodies NA Y N Absent middle phalanx of 5th finger NA Y N Short 5th finger NA Y N 4-5 finger syndactyly Other Gastrointestinal NA Y N Esophageal atresia [playground.phenotips.org]

• Flexion Contracture

  contracture Flexed joint that cannot be straightened 0001371 Kyphosis Hunched back Round back [ more ] 0002808 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Onset Age symptoms begin 0003674 Proximal muscle weakness Weakness in muscles [rarediseases.info.nih.gov]

  contracture NA Y N Talipes equinovarus NA Y N Joint stiffness NA Y N Proximal muscle weakness NA Y N Spondylometaphyseal dysplasia NA Y N Femoral bowing NA Y N Ovoid vertebral bodies NA Y N Absent middle phalanx of 5th finger NA Y N Short 5th finger [playground.phenotips.org]

• Incontinence

  External ophthalmoplegia 0000544 Neonatal asphyxia 0012768 Peripheral axonal neuropathy 0003477 Pyloric stenosis 0002021 Respiratory insufficiency due to muscle weakness 0002747 Skeletal muscle hypertrophy Increased skeletal muscle cells 0003712 Urinary incontinence [rarediseases.info.nih.gov]

  Urinary incontinence, primary or secondary, may be an additional feature indicating smooth muscle involvement [ 33, 37 ]. [ojrd.biomedcentral.com]

• Urinary Incontinence

  incontinence Loss of bladder control 0000020 1%-4% of people have these symptoms Malignant hyperthermia 0002047 Percent of people who have these symptoms is not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance [rarediseases.info.nih.gov]

  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]

  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]

• Gowers Sign

  The condition is inherited in an autosomal recessive manner. 0003700 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Gowers sign 0003391 High palate Elevated palate Increased palatal height [ more ] 0000218 Motor delay 0001270 [rarediseases.info.nih.gov]

  He had symmetric scapular winging, Gowers' sign, hyperlordosis, and waddling gait. He presented facial diplegia (figure, B), ptosis, vertical ophthalmoparesis, dysphonia, and dysarthria, without dysphagia. [neurology.org]

• Delayed Speech and Language Development

  speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]

  speech and language development NA Y N Specific learning disability Intellectual disability NA Y N Mild NA Y N Moderate NA Y N Severe NA Y N Attention deficit hyperactivity disorder NA Y N Autism NA Y N Behavioral abnormality Other Neurological NA Y [playground.phenotips.org]

• Language Delays

  delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysarthria Difficulty articulating speech 0001260 Dysphonia [rarediseases.info.nih.gov]

• Guillain-Barré Syndrome

  The book also describes disorders that often target terminal nerve segment near the neuromuscular junction-- the syndrome of peripheral nerve hyperexcitability and the Guillain-Barré syndrome. [books.google.com]

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]

• Ventricular Hypertrophy

  hypertrophy 0001712 Long face Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ] 0000276 Long fingers 0100807 Narrow mouth Small mouth 0000160 [rarediseases.info.nih.gov]

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]

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]

Treatment – At present, there is no cure for the disease but we can cut down some severe symptoms but cannot completely cure the disease, the main aim of the treatment is improving the lifestyle of the person and minimizes medical complexities. [wikiexclusive.com]

• Although no curative treatment exists to date for this usually very severe disorder, active treatment is indicated, at least initially, because of the favorable course in some neonatally severe cases. • Prognosis cannot be based solely on the nature [medlink.com]

Researchers are building on this knowledge to deepen their understanding of centronuclear myopathies and to find effective treatments. See Research. [mda.org]

Quantitative clinical differences existed between the 3 types, in regard to age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. [checkorphan.org]

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]

• Prognosis cannot be based solely on the nature of the mutation, and decisions about treatment have to be taken on an individual basis. • Differential diagnoses include the autosomal forms of centronuclear myopathy and myotonic dystrophy. • Most, but [medlink.com]

In the absence of severe cardiorespiratory involvement, the prognosis appears favourable. [ojrd.biomedcentral.com]

In contrast, there are no reports regarding the molecular etiology or linkage studies on the autosomal forms of the disease. [research.pasteur.fr]

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]

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]

Darin N, Tulinius M: Neuromuscular disorders in childhood: a descriptive epidemiological study from Western Sweden. Neuromuscul Disord. 2000, 10: 1-9. 10.1016/S0960-8966(99)00055-3. [springermedizin.de]

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]

[…] subtypes: central core and multiminicore myopathy); centronuclear myopathy (subtypes: myotubular myopathy and autosomal centronuclear myopathy); congenital fiber-type disproportion myopathy; myosin storage myopathy; and nonspecific myopathic changes Pathophysiology [emedicine.medscape.com]

Subsequently, it was also shown that a 50% reduction of dynamin 2 by creating a genetic cross leads to mice without mtm1 that do not have the disease – i.e the phenotype has been prevented in a relevant x-linked cnm mouse model (Cowling et al. 2014). [dynacure.fr]

Abnormal sarcomeres prevent muscle fibers from contracting and relaxing normally, resulting in muscle weakness. Some people with centronuclear myopathy do not have identified mutations in the DNM2, BIN1, or TTN genes. [ghr.nlm.nih.gov]

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]

PubMed Central PubMed Google Scholar Owen DJ, Wigge P, Vallis Y, Moore JD, Evans PR, McMahon HT: Crystal structure of the amphiphysin-2 SH3 domain and its role in the prevention of dynamin ring formation. [ojrd.biomedcentral.com]