Presentation
This is usually the most severe form with profound muscle weakness (myopathy) and decreased muscle tone (hypotonia) present at birth. [treat-nmd.eu]
Very frequently present symptoms in 80-99% of the cases: Centrally nucleated skeletal muscle fibers EMG abnormality Gait disturbance Muscular hypotonia (weak muscle tone) Progressive muscle weakness Frequently present symptoms in 30-79% of the cases: [dovemed.com]
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually present from birth, with a static or slowly progressive clinical course. [msdmanuals.com]
Neuropathic signs (absence of tendon reflexes on neurological examination and fibrillations or reduction of the compound muscle action potential on electrophysiological examination) may be present. [orpha.net]
Other presentations Autosomal recessive (and autosomal dominant) inheritance have been described with several different presentations. [slideshare.net]
Entire Body System
- Weakness
Due to weakness, the child will usually not feed very well, and won’t move spontaneously very often. Because the child may be too weak to cough and protect its lungs, serious lung infections lead to high early mortality. [verywell.com]
Centronuclear myopathy: weakness of voluntary muscles, including those on the face, arms, legs, and trunk; drooping upper eyelids; facial weakness; foot drop; affected muscles almost always lack reflexes. [healthofchildren.com]
Manifests with slowly progressive proximal limb girdle weakness, arm weakness, shortness of breath, myalgia, axial weakness, trendelenburg gait, and typically weakness of the diaphragm, leading to neuromuscular respiratory problems. [sites.google.com]
> distal weakness RSMD Merosin def CMD 74. [slideshare.net]
Weakness often progressively deteriorates and wheelchair assistance may be required in mid to late childhood. [treat-nmd.eu]
- Asymptomatic
Moderately in central core disease (CCD) and also in asymptomatic carriers of the ryanodine receptor mutation in CCD. [slideshare.net]
[…] myotubular myopathy for the severe nonprogressive X-linked form of centro-nuclear myopathy in which few of the boys born with this disorder are able to overcome the marked respiratory distress present at birth. [1-4] Although males are severely affected, asymptomatic [anesthesiology.pubs.asahq.org]
Carrier females are typically asymptomatic, but they may exhibit symptoms in rare cases. Most other forms of CNM are rare, and penetrance estimates are not known. Prevalence/Incidence CNM is a rare disorder whose overall prevalence is unknown. [invitae.com]
Even if asymptomatic, they often show mild elevation of CK and subtle changes in the muscle biopsy. DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells. [neuropathology-web.org]
(Reproduced from MedLink ® Neurology, with permission) The majority of carriers of the X-linked formare asymptomatic but a few may show signs of mild muscle weakness [ 10, 32 – 34 ]. [ojrd.biomedcentral.com]
- Falling
Motor milestones such as walking may be delayed, and when the child does walk they may appear to be waddling and may fall frequently. Sometimes the weakness may impede the child’s ability to breathe normally, especially at night. [verywell.com]
Zimbabwe : Bulawayo, Harare, Mutare, Victoria Falls, etc. [maria-online.com]
Often, DMD is not diagnosed until a boy is about 4 or 5 years old, when he appears clumsy and falls frequently when he runs. Muscle weakening starts in the larger, proximal muscles of the legs. [healthcommunities.com]
Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]
Eosinophilic PM, HES, CSS fall into the spectrum of the same disease process. [sites.google.com]
- Epilepsy
Approximately 50 million people currently live with epilepsy worldwide. [centogene.com]
Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]
Brain Boost Sound Advice The link between hearing loss and cognitive decline PICTURES OF YOU The Bright Side After epilepsy derailed her dream of being a dancer, Susan Cruz hopes to teach dance to children. [patients.aan.com]
Chief Editor Amy Kao, MD Attending Neurologist, Children's National Medical Center Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society Disclosure: Have stock (managed [emedicine.medscape.com]
POLG2, SLC25A4, CI0orf2, RRM2B, TK2 and OPA1) MNGIE: TYMF Mitochondrial DNA depletion syndrome Clinical manifestations of mitochondrial disease: Neurological : External ophthalmoplegia, myopathy, fatiguability, cerebellar ataxia, pigmentary retinopathy, epilepsy [sites.google.com]
- Short Stature
[…] encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual [se-atlas.de]
Other clinical features can include facial, bulbar, and respiratory weakness; short stature; low body weight Multiple joint contractures; scoliosis; long, thin face; and high- arched palate. 41. HISTOPATHOLOGY: 42. [slideshare.net]
Non-neurological: Short stature, cardiac conduction, cardiomyopathy, cataracts, lactic acidosis, diabetes mellitus, hypoparathyroidism, renal tubular defects, pancytopenia, intestinal pseudoobstruction, and multiple lipomas. [sites.google.com]
Respiratoric
- Respiratory Insufficiency
insufficiency. • Contractures are common. • External ophthalmoplegia may occur late. • Most infants eventually sit unsupported, but standing is rare. • Weakness is static or minimally progressive • Complications are related to respiratory compromise, [slideshare.net]
At times, congenital myotonic dystrophy, transmitted from the mother, causes severe, even fatal hypotonia, weakness, and respiratory insufficiency in newborn babies. [neuropathology-web.org]
Affected males with MTM1-related CNM have profound hypotonia, muscle weakness, and respiratory insufficiency at birth. [invitae.com]
At birth he had profound muscle weakness, hypotonia, elongated face with tent-shaped mouth, pigeon chest, weak cry and respiratory insufficiency. In his first week of life, he was on 24-h ventilation and tube fed. [content.iospress.com]
- Cough
Because the child may be too weak to cough and protect its lungs, serious lung infections lead to high early mortality. An intermediate form of nemaline myopathy leads to weakness of thigh muscles in infants. [verywell.com]
Medical devices to assist with coughing help patients maintain clear airways, avoiding mucous plugs and avoiding the need for tracheostomy tubes. [en.wikipedia.org]
A cough assistance device is a respiratory aid that has come to be widely used in Sweden in recent years. After a few assisted inhalations it draws up phlegm from the respiratory tract if the individual’s own ability to cough is impaired. [socialstyrelsen.se]
Ocular Double vision, blurred vision, ptosis, disconjugate eye movements Bulbar Palatal: Nasal speech, weak cry, nasal regurgitation of liquids due to palatal weakness, poor suck Pharyngela: Difficulty swallowing, recurrent aspiration pneumonia, cough [sites.google.com]
Gastrointestinal
- Vomiting
Approximately 5% to 10% of individuals have an idiosyncratic reaction with fever, nausea, and vomiting, sometimes accompanied by eosinophilia or increased hepatocellular enzymes at the initiating dose. [sites.google.com]
- Nausea
Approximately 5% to 10% of individuals have an idiosyncratic reaction with fever, nausea, and vomiting, sometimes accompanied by eosinophilia or increased hepatocellular enzymes at the initiating dose. [sites.google.com]
Cardiovascular
- Hypertension
チアノーゼ central cyanosis 中性エンドペプチダーゼ neutral endopeptidase 中性エンドペプチダーゼ阻害薬 neutral endopeptidase inhibitor 中性子 neutron 中性脂肪 triglyceride 中性脂肪血症 triglyceridemia 中性脂肪リッチリポ蛋白 triglyceride-rich lipoprotein 中大脳動脈 middle cerebral artery (MCA) 中等症高血圧[症] moderate hypertension [j-circ.or.jp]
Familial paroxysmal ataxia Familial partial epilepsy Familial porencephaly Familial recurrent peripheral facial palsy Familial syringomyelia Familial temporal lobe epilepsy Farber disease Fatal familial insomnia Fatal infantile encephalopathy-pulmonary hypertension [se-atlas.de]
Skin
- Skin Rash
(M33.0-M33.1) Dermatomyositis produces muscle weakness and skin changes. The skin rash is reddish and most commonly occurs on the face, especially around the eyes, and over the knuckles and elbows. [maria-online.com]
Musculoskeletal
- Myopathy
What is myotubular myopathy? Myotubular myopathy is the most common and severe form of centronuclear myopathy, a type of inherited myopathy that causes problems with the tone and contraction of skeletal muscles. [mda.org]
Hyperthyroid myopathy and hypothyroid myopathy affect different muscles in different ways. [healthofchildren.com]
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]
- Muscle Weakness
This is usually the most severe form with profound muscle weakness (myopathy) and decreased muscle tone (hypotonia) present at birth. [treat-nmd.eu]
Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time. [ghr.nlm.nih.gov]
These myopathies lead to generalized muscle weakness, decreased muscle tone, weak muscle reflexes, poor muscle bulk, and often a characteristic facial and bodily appearance. [encyclopedia.com]
Centronuclear myopathy: weakness of voluntary muscles, including those on the face, arms, legs, and trunk; drooping upper eyelids; facial weakness; foot drop; affected muscles almost always lack reflexes. [healthofchildren.com]
All these conditions have in common a general non advancing muscle weakness, albeit with highly variable characteristics even with one mutation type. [znm-zusammenstark.org]
- Muscle Hypotonia
In affected males, first symptoms of the classical type usually started postnatally with severe weakness, muscle hypotonia, feeding difficulties, and respiratory failure. The boys mostly die in the first year of life. [thieme-connect.com]
- Lordosis
Neck and back pain due to paraspinous muscle weakness, with kyphosis and exaggerated lumbar lordosis, is also common. [sites.google.com]
Neurologic
- Encephalopathy
[…] due to GLUT1 deficiency Encephalopathy due to hydroxykynureninuria Encephalopathy due to prosaposin deficiency Encephalopathy due to sulfite oxidase deficiency Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Endosteal sclerosis-cerebellar [se-atlas.de]
Shigekiyo T, Tani H, Nakajima H, Kimura F : Antecedent diffuse cerebellar lesions on diffusion-weighted MRI in nonalcoholic Wernicke's encephalopathy. Neurol Sci. 2017;:. doi: 10.1007/s10072-017-3190-4(IF:1.749) 6. [osaka-med.ac.jp]
MNGIE : Myopathy, external ophthalmoplegia, Neuropathy, Gastro-Intestinal and Encephalopathy syndrome. [sites.google.com]
- Paresis
From that time, there was a slowly progressing paresis of the legs. During pregnancies at age 25 and 27, the weakness increased. There was no diplopia or weakness of the arms. [jamanetwork.com]
- Asthenia
[…] paresthesia, burning Negative: numbness or sensory ataxia ChLORIDE-PP Chronological evolution of symptoms Did the symptom occur in a focal nerve distribution before it became confluent (e.g., MMN vs length-dependent polyneuropathy) Distinguish weakness from asthenia [sites.google.com]
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]
Secondary: Postradiation neck extensor myopathy, Anterior scar contracture, Postbotulinum toxin injection, Cushing syndrome, Carnitine deficiency, Hypothyroidism, Hypokalemia, Hyperparathyroidism Other : Malignancy, Postsurgical Diagnostic Workup of Dropped [sites.google.com]
Treatment
This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.es]
[…] help prevent abnormal bone formation, but there is no cure following onset central core disease: no treatment nemaline myopathy: no treatment centronuclear (myotubular) myopathy: no treatment paramyotonia congenita: treatment often unnecessary myotonia [healthofchildren.com]
Management and treatment There is no curative treatment currently available. Management is supportive and based on a multidisciplinary approach. [orpha.net]
The complications of Centronuclear Myopathy may include: Severe cardiac abnormalities Severe breathing difficulties Mobility and quality of life may be affected Complications may occur with or without treatment, and in some cases, due to treatment also [dovemed.com]
We hope that what we learn will be useful for improving diagnosis and treatment of this condition. [childrenshospital.org]
Prognosis
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]
Prognosis The disease has usually a slowly progressive course with potential loss of independent ambulation after the sixth decade. [orpha.net]
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 The prognosis for patients with myopathy depends on the type and severity of the individual's disease. In most cases, the myopathy symptoms can be successfully treated, but in others, the disease can be fatal in childhood or adolescence. [healthofchildren.com]
Etiology
Myopathy is a common term for a muscle disease that is unrelated to any disorder of innervation or neuromuscular junction, with a wide range of possible etiologies. [news-medical.net]
Etiology Mutations in the dynamin 2 ( DNM2 ) gene on chromosome 19p13.2 are responsible for AD-CNM. DNM2 mutations also cause Charcot-Marie-Tooth disease Type 2B (CMT2B) (see this term). [orpha.net]
(Etiology) Centronuclear Myopathy is a genetic disorder that is inherited in any of the following manner: Autosomal dominant form Autosomal recessive form X-linked form Autosomal dominant: Autosomal dominant conditions are traits or disorders that are [dovemed.com]
Myotubular myopathy Centronuclear myopathy Myopathies with fiber size variation Congenital fiber type disproportion With the advent of improved techniques such as electron microscopy, enzyme histochemistry, immunocytochemistry, and molecular genetics, the etiologies [emedicine.medscape.com]
[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]
Epidemiology
Summary Epidemiology The exact prevalence remains unknown. Clinical description Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. [orpha.net]
Epidemiology: Worldwide: Incidence:6 per 100,000 live births or 1/10th of all neuromuscular disorders. [slideshare.net]
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]
Epidemiology Frequency International The true incidence of congenital myopathies is unknown. [emedicine.medscape.com]
Pathophysiology
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]
Pathophysiology In the common, well-described congenital myopathies, mutations have been identified in genes that encode for muscle proteins. [emedicine.medscape.com]
Prevention
How can Centronuclear Myopathy be Prevented? Currently, Centronuclear Myopathy may not be preventable, since it is a genetic disorder. [dovemed.com]
Prevention As of 2004 there is no way to prevent the genetic mutations that cause myopathies, nor are there ways to prevent metabolic and endocrine failures that result in myopathies. [healthofchildren.com]
Current Issue Issue Archive Online Only En Español Explore Further Healthy Living Discover Brain & Life articles and news about living healthy, safety, prevention, caregiving, and more. [patients.aan.com]
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]
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]