We describe in detail central core disease, multiminicore disease, and nemaline rod myopathy. Department of anaesthesia, the hospital for sick children, 555 university avenue, toronto, ontario, m5g 1xs nemaline rod myopathy is an inherited congenital myo nemaline rod. As classified by the european neuromuscular centre guidelines, 23 patients had severe congenital, 29 intermediate congenital. If the address matches an existing account you will receive an email with instructions to retrieve your username. The congenital myopathies are a group of disorders that are difficult to distinguish. We present two sisters with nemaline rod myopathy and their anaesthetic management for scoliosis surgery. We categorize the diseases according to the affected proteins and discuss the risk for mh, which is high or theoretically possible when the calciumconducting proteins are affected. Nemaline myopathy genetic and rare diseases information. Nemaline myopathy nm is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. Both patients had neonatal onset of muscle symptoms, delayed motor milestones and a slowly progressive muscle weakness. The invitae nemaline myopathy panel analyzes 11 genes associated with nemaline myopathya variable spectrum of skeletal muscle disorders that is typically characterized by muscle weakness and visualization of nemaline bodies observed on muscle biopsy specimens. Congenital and other structural myopathies sciencedirect. Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement.
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Onset in early life with hypotonia, hyporeflexia, generalized weakness that is more often proximal than dis. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. Anaesthesia in patients with suscpetibility to mh can be performed under safe conditions. Onset was congenital in 16 patients, infantile in five, and adult in four. Phenotypic characterization in a large cohort and a comprehensive overview of slonm are lacking. Six different clinical subtypes of nemaline myopathy have been identified based on disease severity and age of onset, ranging from a severe congenitalonset at birth form that is usually lethal in the first few months of life, through to less severe forms with onset in childhood or adulthood. Diagnosis is frequently dependent on the result of histological examination of muscle biopsy specimens in conjunction with clinical diagnosis. Mar 25, 2019 about 50percent of nemaline myopathy cases are associated with inheritance from parents with dominant or recessive forms of the disease. The disease typically appears after the fourth decade of life and progresses subacutely. A pdf format of the original mda version can be printed from here.
To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from india. Spinal anesthesia for gastrostomy in an infant with nemaline. General anaesthesia for a child with muscular disorders is a common clinical scenario. Engel and oberc 8 described a patient with adultonset nemaline myopathy and monoclonal gammopathy. When the filament proteins fail to do their jobs, muscles cant contract properly, causing a loss of tone and strength.
Affected patients characteristically present in infancy with a nonprogressive hypotonia and symmetrical muscle weakness. Defective regulation of contractile function in muscle. Anesthetic consideration for patients with nemaline rod. Anaesthetic implications of nemaline rod myopathy 0 from the department of anaesthesia, the hospital for sick children and university of toronto, toronto, ontario. Nemaline myopathy nm is a disorder characterized by muscle weakness, depressedabsent deep tendon reflexes and the presence of rodshaped structures in muscle cells.
In general, the weakness does not worsen during life. Infants usually have problems with breathing and feeding. Congenital myopathy information page national institute of. A fifth myopathy, nemaline myopathy, is caused by mutations that affect filament proteins. Anaesthesia induced rhabdomyolysis a case report anaesthesia induced rhabdomyolysis a case report. Facts about myopathies muscular dystrophy association. The most common of these rare disorders are nemaline myopathy, central core disease, centronuclear myotubular myopathies, and congenital fiber type disproportion. Nemaline myopathy types, causes, symptoms, treatment and. The genetic basis of nemaline myopathy has been described.
Get a printable copy pdf file of the complete article 2. Nemaline rod myopathy, also known as nemaline myopathy nm, is a rare and phenotypically diverse condition. Anaesthesia for cardiac surgery in children with nemaline myopathy. Department of anaesthesia, the hospital for sick children, 555 university avenue, toronto, ontario, m5g 1xs nemaline rod myopathy is an inherited congenital myo nemaline rod myopathy belongs to the group pathy first described in 1963. Infantile nemaline myopathy nm is a rare genetic disease with varying inheritance characterized by thin muscle mass and generalized hypotonia. Other adverse reactions to anesthesia also can occur in people with ion channel diseases. Clinical expression is variable and ranges from congenital muscle weakness and hypotonia to mild skeletal myopathy of childhood or adult onset. The condition is also known by other names as nemaline rod myopathy, congenital,rod disease,rod myopathy.
Core myopathies and risk of malignant hyperthermia uni ulm. Anaesthetic management of a case of distal myopathy. Spinal anesthesia was administered to preempt the potential problems of difficult tracheal intubation and prolonged mechanical ventilation secondary to muscle weakness after the use of iv anesthetics in this patient. The incidence of xlinked myotubular myopathy is estimated at 200 male births but epidemiological data for other forms are not currently available. The clinical picture of cnmis uniform, but the severity varieswidely. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry.
Nemaline myopathy also called rod myopathy or nemaline rod myopathy is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. Clinical and pathological features of patients with nemaline myopathy. Symptoms nemaline myopathy is a disease that affects muscle development. Nemaline myopathy diagnosed in two young border collies in. At least one myopathy a type of myotubular myopathy is caused by mutations in a muscle protein required for normal muscle development. In 1963, shy described nemaline myopathy as a congenital, nonprogressive disease associated with microscopic rodlike structures in skeletal muscle fibers. Adultonset nemaline myopathy and monoclonal gammopathy. Mutations in ryr1 in malignant hyperthermia and central. Anesthetic management of a pediatric patient with neb1. Anaesthetic management in a patient with nemaline myopathy.
Nemaline rod myopathy is an inherited congenital myopathy first described in 1963. Nemaline myopathy is a rare genetic muscle disorder. The hallmark of this disease is the presence of sarcoplasmic inclusions nemaline rods in skeletal muscle fibres, which can be visualised in sections. However, the use of propofol in patients with mitochondrial myopathies may be problematic, consideringtheriskforpropofolinfusionsyndrome. Nemaline myopathy 2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. Sporadic lateonset nemaline myopathy slonm is a very rare disorder. Nemaline myopathy is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Written in english and spanish facts about myopathies including nemaline myopathy an mda booklet pdf format available online. Overview congenital myopathies share some common features, though severity is highly variable. The anesthetic management of patients with nm may be complicated by poor respiratory reserve 24, difficult tracheal intubation 2,3,5, and a possible susceptibility to malignant hyperthermia. As an example, a patient with nemaline myopathy associated with a confirmed ryr1 variant is considered mhsusceptible, whereas a patient with the same.
More detailed information about the symptoms, causes, and treatments of myopathy is available below. The severity of these symptoms varies and can change throughout ones life to some extent. Anaesthesia in children with a neuromuscular disease is challenging the anaesthesiologist. Get a printable copy pdf file of the complete article.
We categorize the diseases according to the affected proteins and discuss the risk for mh, which is. Mutations in the gene have been found in association with several diseases. Central core, the nemaline, the king denborough and congenital and mitochondrial myopathies, which can be present at birth. Nemaline myopathy genetics autosomal recessive and dominant forms first discovered in 1956 by dr. Later, some skeletal problems may arise, such as scoliosis curvature of the spine. Asubclassification ofnemaline myopathy into an early fatal form, a more benign congenital form,3 and an adult onset form4 has been suggested. Patients often present with rapid progression of generalized muscle weakness and pain, and occasionally including neck musculature. Nemaline myopathy nm is a rare congenital myopathy with variable onset 1 clinically characterized by progressive general muscle weakness, wasting, and hypotonia, including axial and respiratory muscles.
Anaesthetic implications of nemaline rod myopathy anaesthetic implications of nemaline rod myopathy. It gets its name from the fact that the muscle cells contain abnormal clumps of threadlike material probably disorganized filament proteins called nemaline bodies nema is greek for thread. I am offering people the opportunity to plant a tree in celebration of a family member or friend with nemaline myopathy and at the same time raise funds for the nemaline myopathy support group. Malignant hyperthermia susceptibility and related diseases. Whereas nemaline bodies typically occur in the sarcoplasm of the muscle fiber, occasional instances of intranuclear nemaline bodies figure 28. We describe the fifth case of this unusual association. The most common clinical presentation is earlyonset in infancy or childhood muscle weakness predominantly affecting proximal limb muscles. Mar 11, 2019 the first report of a congenital myopathy was in 1956, when a patient with central core disease ccd was described. In this group occur frequently perioperative complications from muscle. Spinal anesthesia for gastrostomy in an infant with.
Nemaline myopathy with severe neonatal hypotonia and total. Diagnosis of respiratory dysfunction resulting from neurological disease may therefore require a higher index of clinical suspicion or the application of specific tests. Anaesthetic implications of nemaline rod myopathy springerlink. Anaesthetic implications of nemaline rod myopathy pdf. Sporadic lateonset nemaline myopathy slonm is a rare, lateonset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. For human nm, several causative gene mutations have been identified. Abstract in this article, we analyze myopathies with cores, for which an association to malignant hyperthermia mh has been suggested. Nemaline myopathy and anesthetic management 78 keypoints anesthetic care for patients with nemaline myopathy is challenging due to the rarity of the disease and the lack of consensus on optimal anesthetic management. Note marked variability in fibre size, moderate increase in connective tissue and numerous central nuclei. In some cases, the pathology extends to involve cardiac muscle fibers, resulting in a hypertrophic or dilated cardiomyopathy. Nemaline myopathy an overview carina wallgrenpettersson 2.
Central core disease, multiminicore disease and nemaline rod myopathy have an. Find, read and cite all the research you need on researchgate. Rapid wholegenome sequencing decreases infant morbidity. The patient may be a child with initial symptoms, which must be subjected to muscle biopsy or a patient with overt myopathy, with all the events. Autologous stem cell transplantation in a patient with. General anesthesia in myopathic poses several problems. The disease has been linked to mutations in three very different genes encoding. Nm s heterogeneity is linked to nine distinct genes table 1. Conference paper pdf available november 2004 with 7 reads how we measure reads. Centronuclear myopathy cnm is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Nemaline myopathy is a rare, slowly progressive neuromuscular disorder, characterized by generalized skeletal and smooth muscle weakness and hypotonia. Guide to respiratory care for neuromuscular disorders by muscular dystrophy canada a comprehensive 52 page booklet well worth printing out as a handy copy. Anesthetic consideration for patients with nemaline rod myopa thy. Anesthetic experience of the patient with nemaline myopathy. Implications we report a case of spinal anesthesia in an infant with nemaline myopathy.
Myopathy is a general term referring to any disease of muscles. Review of cardiac disease in nemaline myopathy pediatric. Distal myopathy caused by homozygous missense mutations in. Nemaline myopathy nord national organization for rare. Considerations about anesthesia in patients suffering from. The adult onset form of nm manifests between twenty and fifty years of age. Ryr1 mutations in uk central core disease patients. The disease affects all skeletal muscles including the diaphragm with sparing of cardiac and other muscle. At least six different forms of nemaline myopathy have been identified.
Myopathy is a general medical term meaning disease of the muscle. Centronuclear myotubular myopathy orphanet journal of. Nemaline myopathy nm is an inherited congenital neuromuscular condition characterized by skeletal muscle weakness in various parts of the body. Nemaline myopathy is the most common congenital myopathy. Abnormalities of muscle cell structure and metabolism lead to various patterns of weakness and dysfunction. Muscle rigidity following halothane anaesthesia in two patients with freemansheldon syndrome. Guide to respiratory care for neuromuscular disorders by muscular dystrophy canada a comprehensive 52 page booklet well worth printing out as a.
Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. This provisional diagnosis was reported to the operating room immediately before induction of general anaesthesia for intraoperative cholangiogram and kasai. Awareness, education, research updates, events, and so much more. The remaining 50percent of cases are characterized as first in family, which means no genetic history of the condition exists. Affected patients characteristically present in infancy with a nonprogressive hypotonia and. C14581t, r4861c exon 101, c14581t, r4861c exon 101, 14587del18, 4863del6 jungbluth et al.
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the persons red blood cells are elliptical rather than the typical biconcave disc shape. Anesthesia for patients with nemaline rod myopathy 34. Asai t, fujise k, uchida m 1992 anaesthesia for cardiac surgery in children with nemaline myopathy. Ryan mm, ilkovski b, strickland cd, schnell c, sanoudou d, midgett c, et al. Myopathies can be acquired or inherited, and can occur at birth or later in life. Myotubular centronuclear myopathy 345 myxoedema 346 myxoma,cardiac 346 n nemaline myopathy 350 neuro.
Nemaline rod myopathy is an inherited congenital myopathy. Foundation building strength for nemaline myopathy nord. Mar 10, 2014 nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. Altogether, 35 patients with nemaline myopathy with cardiac disease were identified. Patients often present with rapid progres sion of generalized muscle weakness and pain, and oc casionally including neck musculature. Anesthesia for patients with nemaline rod myopathy 34 the adult onset form of nm manifests between twenty and fifty years of age. Pdf on nov 1, 2004, maria carnero and others published anaesthetic management in a patient with nemaline myopathy. People with nemaline myopathy have muscle weakness myopathy throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. We presented a pediatric patient with nemaline myopathy undergoing cleft palate surgery. The mutation was not found in healthy family members.
Nemaline myopathy nm is a rare congenital muscle disease with. Nemaline myopathy is an inherited myopathy, a group of diseases that causes problems with the tone and contraction of skeletal muscles. Myopathy refers to a clinical disorder of the skeletal muscles. Clinical course correlates poorly withmuscle pathology in nemaline myopathy. Since that time, other myopathies have been defined as congenital myopathies, which have the following characteristics. Myopathy symptoms, diagnosis, treatments and causes.
Nemaline myopathy and cardiomyopathy sciencedirect. The severity, age of onset, and inheritance pattern varies among these different forms of nemaline myopathy. Malignant hyperthermia mh is an inherited disorder of skeletal muscle that manifests clinically as a hypermetabolic crisis when a susceptible individual receives a halogenated inhalational anesthetic agent or succinylcholine. Reyes 150,000 births 6 different mutations identified onset infancy and early childhood clinical presentation face, neck and proximal muscle weakness absent deep tendon reflexes dtr, normal creatinine kinase. The incidence of all congenital myopathies including central core disease, multiminicore disease, nemaline myopathy and centronuclear myopathy is estimated at around 0.
Succinylcholine is contraindicated in all patients with myopathies. Respiratory involvement in dominant ccd is exceptional but may be severe in neonatal cases due to recessive ryr1 mutations 15. Multicore myopathy in a patient with anhidrotic ectodermal. We report 143 australian and north american cases of primary nemaline myopathy. Nemaline rod myopathy is an autosomal dominant disease characterized by nonprogressive symmetric skeletal muscle weakness affecting principally. Diseases congenital myopathies type of nemaline myopathy. Malignant hyperthermia, a pharmacogenetic disorder of skeletal muscle characterised by an abnormal response to muscle relaxants such as succinylcholine and volatile. Review of cardiac disease in nemaline myopathy sciencedirect. It was first described in 1966 by engel in two patients 1 and by engel and resnick in another patient 2. Myopathy, myasthenic syndrome, and epidermolysis bullosa. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. As yet, no definitive clinical or pathologic markers for the various genetic forms of nemaline myopathy have been identified, although a clue to the presence of tpm3 mutations may be the selective involvement of type 1 fibers in these patients. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses to mh triggers.
Aug 27, 2015 little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy. Oct 01, 2011 a registry supports research by collecting of information about patients that share something in common, such as being diagnosed with adultonset nemaline myopathy. Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions. The inheritance of nemaline myopathy is most commonly autosomal recessive but can be autosomal dominant. Malignant hyperthermia anaesthesia induced syndrome characterized by muscle contractions. Planting a tree is a great way to mark an occasion or to remember a loved one. People with nemaline myopathy have muscle weakness myopathy throughout the body, but it is typically most severe in the muscles of the face. For a discussion of genetic heterogeneity of nemaline myopathy, see 161800. Nemaline rod myopathy nm is a rare form of congenital myopathy characterized by slowly progressive or nonprogressive muscle weakness and pathognomonic rodlike structures within the muscle fibers.
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