Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. To date, curative care is not available for these diseases, which may severely affect both lifespan and quality of life. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place. There are now published guidelines for the management of children with congenital muscular dystrophies cmd and congenital myopathies cm.
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of ullrich congenital muscular dystrophy. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. In early stages the muscle biopsy may just reveal a myopathic picture without clear dystrophic features, but the clinical context and morphology. Congenital muscular dystrophies and unstructured congenital. Jul 11, 20 types of myopathies inflammatory myopathies polymyositis dermatomyositis inclusion body myositis muscular dystrophies xlinked limbgirdleard congenital fasioscapulohumeral ad oculopharyngeal myotonic syndromes myotonic dystrophy ad inherited schwarzjampel druginduced congenital myopathies central core disease nemaline myopathy. Congenital myopathies merck manuals consumer version. Although muscular dystrophies are also genetic disorders causing muscle weakness, they differ from congenital myopathies in age of onset, distribution of affected muscles, and the presence of characteristic dystrophic changes eg, muscle fiber necrosis and regeneration not present in biopsy specimens from congenital myopathies. Generally, the weakness is either static or very slowly progressive. Congenital myopathies are conditions where changes in the muscle cells make them less able to contract. Congenital myopathy and muscular dystrophy panel genedx.
Cure cmd congenital muscular dystrophy genetic and. Muscular dystrophy genes often encode components of the muscle membrane and extracel lular matrix and lead to an increased susceptibility to muscle damage. Clinical approach to the diagnosis of congenital myopathies. Congenital myopathies are a group of genetic muscle disorders. Mda also has provided endless support and information. Pdf the inherited myopathies and muscular dystrophies are a diverse group of muscle diseases. The physiology of titin related myopathy and muscular dystrophy titin is a large protein that is essential for the muscle to work, both skeletal and cardiac. Hereditary muscular disorders correspond to a heterogeneous group of diseases comprising various forms of dystrophic or nondystrophic myopathies.
Data regarding the frequency of many of these disorders are surprisingly limited table 1. A differential diagnosis traditionally includes the mild muscular dystrophies, neuropathic disorders, and metabolic and neuromuscular junction disease. The conditions designated as related myopathy are also those that may have presentations as more typical congenital myopathies. Ullrich congenital muscular dystrophy nemaline myopathy. History and current difficulties in classifying inherited. Click here for the professional version click here for the professional version congenital myopathies are rare, inherited disorders of the muscles that cause reduced muscle tone and weakness. Congenital myopathies are rare muscle diseases present at birth congenital that result from genetic defects. Printable congenital fibre type disproportion factsheet. In this study, we assessed the frequency and phenotypic spectrum of lama2. Approach to a case of floppy infant congenital muscular dystrophy. Bethlem myopathyullrich congenital muscular dystrophy. Findings historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features and histopathology.
Evaluation, diagnosis, and management of congenital. Over 30 genes causing muscular dystrophy are known presently. In addition to congenital myopathies and congential muscular dystrophies, spinal muscular atrophies can also present with similar clinical features. Pdf inherited myopathies and muscular dystrophies michael. Whereas most of these conditions manifest at birth or in early childhood, milder variants manifesting. However, different genes have now been identified as associated with the various. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. Bethlem myopathy ullrich congenital muscular dystrophy. The pattern of weakness, tempo of evolution, and mode of inheritance vary among different dystrophies. Congenital myopathies and muscular dystrophies anatomical localisation pathological processes central nervous system deep tendon reflexes typically preserved brainsystemic disease hypoxicischaemic encephalopathy sepsis congestive cardiac failure brainstem downs syndrome praderwilli syndrome craniocervical junction congenital malformations. Diagnostic approach to the congenital muscular dystrophies.
Bromberg, md, phd a traditional approach to diagnostic evaluation in neuromuscular disease centers on a thorough clinical history, physical examination, family history, and ancillary tests such as serum creatine kinase ck levels. Typically, an infant with a congenital myopathy will be floppy, have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up. Congenital present at birth myopathies have a genetic basis. Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance. Collagen virelated myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity. With the identification of an increasing number of genetic defects in congenital neuromuscular disorders, it has also become apparent that there is substantial clinical and genetic overlap between the three disease groups. Patients with these conditions share characteristics such as early onset of weakness and severe hypotonia. All these forms of congenital muscular dystrophy lead to muscle weakness and a decrease of muscle tone in early childhood. Also, myopathies are usually nonprogressive that is, a myopathy usually doesnt grow significantly worse over a persons lifetime. If you continue browsing the site, you agree to the use of cookies on this website.
The best example is the different disease groups of inherited congenital muscle dystrophies and inherited congenital myopathies, with all four groups consisting of different disorders. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies. The muscular dystrophies alan e h emery seminar the muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. Recent findings historically, diagnoses of congenital muscular dystrophy and congenital myopathy have. What is the difference between muscle dystrophies and. Congenital md muscular dystrophy australia muscular. Manual muscle testing demonstrated mild limb girdle weakness. It is important that patients and families receive complete information regarding the diagnostic process and the results, including hard copies for their childs own records. Congenital myopathies msd manual professional edition. The congenital muscular dystrophies cmd and myopathies cm are a diverse group of diseases. Sepn1related myopathy including subtypes, previously referred to as rigid spine congenital muscular dystrophy or rsmd1 and minicore myopathy is caused by changes in the gene sepn1, which is responsible for the production of a protein called selenoprotein n sepn1. Facts about myopathies muscular dystrophy association. Types of muscular dystrophy and neuromuscular diseases.
Definition, classification, clinical features, differential diagnosis, investigations, management. The congenital myopathies and congenital muscular dystrophies are a diverse group of genetically determined myopathies and frequently manifest at birth usually with slowly progressive course. Diseases characterized by muscular weakness in early infancy typically obvious at birth and elevated ck in neonatal period normalizes by 610 wks. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. The role of neurophysiology, genetics, and ancillary testing russell j. This defect primarily affects skeletal muscle fibres and causes muscular weakness andor hypotonia.
Recent findings historically, diagnoses of congenital muscular dystrophy and congenital myopathy. Rss, rigid spine muscular dystrophy 1, rsmd1, muscular dystrophy, congenital, merosin positive with early spine rigidity, mdrs1, minicore myopathy, severe classic form, multicore myopathy, severe classic form, multiminicore disease, severe classic form, desminrelated myopathies with. More specifically, myopathies are diseases that cause problems with the tone and contraction of skeletal muscles muscles that control voluntary movements. Other inheritable myopathies cause episodes of muscle weakness or stiffness that are milder and more localized, and temporary in nature. Muscular dystrophy uk does not necessarily endorse the services provided by the organisations listed in our factsheets.
This article summarizes the clinical and genetic aspects of these disorders. The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder. Congenital muscular dystrophies are autosomal recessivelyinherited muscle diseases. Congenital muscular dystrophies cmds are overall clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy and in which the muscle biopsy is compatible with the presence of a dystrophic myopathy. Congenital myopathies cms are a group of inherited myopathies most commonly presenting in infancy with hypotonia and weakness. The most prominent clinical disorders, central core disease, nemaline myopathy, and centronuclear myopathy as well as the congenital muscular dystrophies.
The evaluation of patients suspected of having a myopathy begins with a. Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay. Definition, classification, clinical features, investigations. Like my hyperkpp, many myopathies can be controlled so that they cause very little limitation on your life. There are many different types of congenital myopathies, but most share common features, including lack of muscle tone and weakness. A mutation of this gene can lead to following conditions. Other organs such as the brain, eyes, and skin may be involved. Mar 27, 2019 myopathies can be inherited such as the muscular dystrophies or acquired such as common muscle cramps. Congenital myopathies in the adult neuromuscular clinic. However, medical care for patients with congenital muscular dystrophy remains very diverse. These disorders are present at birth or show up during infancy. The cmds are a group of rare muscular dystrophies mds that have traditionally been defined as having symptom onset at birth. Oct 15, 2003 many other muscular dystrophies and congenital myopathies are caused by mutations affecting other components of the complex, such as a congenital dystrophy linked to laminin.
Congenital myopathy an overview sciencedirect topics. Congenital myopathy is a very broad term for any muscle disorder present at birth. The muscular dystrophies and congenital myopathies are inherited diseases of the skeletal muscle, which lead to a loss of muscle function and are often fatal. Pdf inherited myopathies and muscular dystrophies researchgate. Collagen virelated myopathy genetics home reference nih. Congenital myopathies and congenital muscular dystrophies niall tubridy, bertrand fontaine and bruno eymard congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. While many of the loci involved are already known, these conditions remain incurable, and genetic models are being developed in an effort to understand the pathological mechanisms involved. Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders. Congenital present at birth myopathies have a genetic basis, meaning they can be passed from parent to child. In fact, some children with myopathies gain strength as they grow older. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness. Other signs and symptoms of some congenital myopathies include feeding and breathing difficulties, as. The zebrafish as a model for muscular dystrophy and. Congenital myopathies muscular dystrophy association.
Heterogeneous group of diseases, which do not fit into the above two major categories. Congenital muscular dystrophy and congenital myopathy. This article summarizes the clinical and genetic aspects of. Congenital myopathies and muscular dystrophies neurologic clinics. Congenital muscular dystrophies cmds are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement. Cmds are distinct from congenital myopathies, which are characterized by different pathologic features and genetic etiologies. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtypespecific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary. Genedx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test. Although they share the limbgirdle pattern of weakness, they are clinically diverse and overlap with dystrophinopathies, congenital myopathies, congenital muscular dystrophies, metabolic myopathies, and other muscle diseases. Muscular dystrophies md are rare inherited primary diseases of muscle, clinically, genetically and biochemically heterogeneous while sharing clinical symptoms. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy.
Congenital means from birth and as such individuals with congenital muscular dystrophy cmd usually have symptoms present at birth or in the first few months. Later in life they are sometimes associated with delayed motor development and speech and learning difficulties. Congenital fibre type disproportion muscular dystrophy uk. Congenital myopathies symptoms and causes mayo clinic. The congenital muscular dystrophies cmd and myopathies cm are a diverse group of diseases that share features such as early onset of symptoms in the first year of life, genetic causes, and high risks for restrictive lung disease and orthopedic deformities.
Evaluation, diagnosis, and management of congenital muscular. This effort was supported by cure cmd, treatnmd, afmassociation. Congenital myopathy information page national institute. The management of congenital muscular dystrophy cmd. Prenatal diagnosis of congenital myopathies and muscular. Congenital myopathies and congenital muscular dystrophies. The congenital muscular dystrophies are subdivided into categori es by protein function or gene and have an estimated prevalence ranging from 0. There are at least 30 different types of cmd and each has a different genetic cause and a different range of symptoms, but they all primarily affect the muscles used for movement. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year.
Centronuclear myopathy, and limbgirdle muscular dystrophy type 2j lgmd2j. Much progress has been made in recent years in clarifying the. Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Symptoms of congenital myopathies some of the congenital inheritable myopathies cause severe, general muscle weakness that creates problems with basic activities like swallowing and breathing. Benign congenital myopathy american journal of medicine. Congenital muscular dystrophies and congenital myopathies. Pdf approach to the diagnosis of congenital myopathies. In early stages the muscle biopsy may just reveal a myopathic picture without clear dystrophic features, but the clinical context and morphology are able. Table 1 the congenital muscular dystrophies disease gene symbol protein collagenopathies. Myopathies can be inherited such as the muscular dystrophies or acquired such as common muscle cramps. In early stages the muscle biopsy may just reveal a myopathic picture without clear dystrophic features. But, if you have one of the myopathies that has more disabling effects, you can be sure that mda is your best ally helping you to find appropri.
The management of congenital muscular dystrophy cmd a guide for families preface this family guide summarizes an international consensus on congenital muscular dystrophy cmd diagnosis and medical care. The term congenital myopathy applies only to conditions with defined structural abnormalities, not to other neuromuscular disorders with congenital onset such as congenital muscular dystrophies and mitochondrial and other metabolic myopathies. Muscular dystrophies are genetically transmitted diseases characterized pathologically by degeneration and loss of myofibers and clinically by inexorably progressive weakness and, many of them, by elevated ck. An overview of congenital myopathies stony brook school of. Congenital muscular dystrophies and unstructured congenital myopathies hansgerd lenard, md and hanshilmar goebel, md a satisfactory nosological classification of all congenital myopathies without structural characteristics is not yet available. Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Home test catalog by test az congenital myopathy and muscular dystrophy panel congenital myopathy and muscular dystrophy panel forms and documents. The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs.
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