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]

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]

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

[…] at birth Big skull present since birth Large skull present at birth Large skull present since birth [ more ] 0004488 Mildly elevated creatine phosphokinase 0008180 Muscle fibrillation 0010546 Polyhydramnios High levels of amniotic fluid 0001561 Proximal [rarediseases.info.nih.gov]

• Feeding Difficulties

  Showing of 47 | 30%-79% of people have these symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Difficulty running 0009046 Generalized amyotrophy Diffuse skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [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]

• Pathologist

  PMID: 25957634 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

  Thus, pathologists and treating physicians use those terms almost interchangeably, although researchers and clinicians are increasingly distinguishing between those phrases. [en.wikipedia.org]

• Inflammation

  Causes of muscle disorders include Injury or overuse, such as sprains or strains, cramps or tendinitis A genetic disorder, such as muscular dystrophy Some cancers Inflammation, such as myositis Diseases of nerves that affect muscles Infections Certain [icdlist.com]

  Inflammation is not a feature. There may be internal nuclei and occasional fibre splitting."7 There is often focal disruption of the myofibrillar pattern on EM. [zdoc.site]

• Visual Impairment

  impairment NA Y N Abnormal cornea morphology NA Y N Coloboma NA Y N Abnormal anterior chamber morphology NA Y N Cataract NA Y N Abnormal retinal morphology NA Y N Abnormality of the optic nerve NA Y N Microphthalmia NA Y N Nystagmus NA Y N Strabismus [playground.phenotips.org]

• Visual Impairment

  impairment NA Y N Abnormal cornea morphology NA Y N Coloboma NA Y N Abnormal anterior chamber morphology NA Y N Cataract NA Y N Abnormal retinal morphology NA Y N Abnormality of the optic nerve NA Y N Microphthalmia NA Y N Nystagmus NA Y N Strabismus [playground.phenotips.org]

• Muscle Weakness

  weakness 0003327 Distal muscle weakness Weakness of outermost muscles 0002460 EMG: myopathic abnormalities 0003458 Facial palsy Bell's palsy 0010628 Feeding difficulties in infancy 0008872 Flexion contracture Flexed joint that cannot be straightened [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]

  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]

• Proximal Muscle Weakness

  […] fibrillation 0010546 Polyhydramnios High levels of amniotic fluid 0001561 Proximal muscle weakness in lower limbs 0008994 Proximal muscle weakness in upper limbs 0008997 Ptosis Drooping upper eyelid 0000508 Spontaneous abortion 0005268 Thin ribs Slender [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]

  The majority of patients exhibit distal or proximal muscle weakness as a first symptom, presenting as general muscle weakness, eyelid drooping, extraocular muscle paralysis, high arch palate, contracture of the Achilles tendon, trismus, and reduction [spandidos-publications.com]

• Areflexia

  […] muscle hypertrophy Increased skeletal muscle cells 0003712 Urinary 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 [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

  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]

  In AR-CNM, specifically, affected people generally begin showing signs and symptoms during infancy or early childhood. [rarediseases.info.nih.gov]

• Hyperactivity

  NA Y N Delayed fine motor development NA Y N Delayed gross motor development NA Y N Delayed 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 [playground.phenotips.org]

• Global Developmental Delay

  developmental delay NA Y N Delayed fine motor development NA Y N Delayed gross motor development NA Y N Delayed 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 [playground.phenotips.org]

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]

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]

Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries. [books.google.com]

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]

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]

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

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

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]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.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 CAS 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]