We report that antibodies to dysferlin identify a protein of approximately 230 kda and show that dysferlin is located in the muscle membrane. Weakness eventually includes the hand and thigh muscles but commonly spares the quadriceps muscles, even in advanced disease. Miyoshi myopathy muscular disorders discussions body. Miyoshi myopathy with primarily distal weakness and limbgirdle muscular dystrophy type 2b lgmd2b with primarily proximal weakness. Gnerelated myopathy, also known as inclusion body myopathy 2, is characterized by slowly progressive distal muscle weakness that begins in the late teens to early adult years with gait disturbance and foot drop secondary to anterior tibialis muscle weakness. Definition myopathies are disorders with structural changes or functional impairment of muscle. If you have problems viewing pdf files, download the latest version of adobe reader. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous.
Phenotypic features and genetic findings in 2 chinese. Patients with a nondysferlin miyoshi myopathy have a. Article abstract limbgirdle muscular dystrophy type 2b lgmd2b and miyoshi myopathy mm are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p. Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following. Except for miyoshi myopathy, which has a striking elevated serum creatine kinase level and the typical findings of muscular dystrophy, most of the distal myopathies have normal or midly elevated. The gene product has been identified for miyoshi myopathy, 1 hereditary inclusion body myopathy nonaka myopathy, 2 tibial muscular dystrophy udd myopathy, 3 earlyonset distal myopathy. Finally, some myopathies can give people a listless facial expression, caused by. An acute myopathy has also been described in the literature but is very rare. Mm is typically characterized by muscular weakness, initially affecting the gastrocnemius or soleus muscle from the late teens or early adulthood.
Although there are no official recommendations, a number of patients have shared their stories with us to let us know how physical. However, myogenic differentiation of hipscs has faced obstacles, namely, low efficiency. We describe the clinical features in 28 patients with dysferlin deficiency confirmed by muscle immunohistochemistry ihc. Chandan n intern, department of medicine, mims, mandya 2. In duchennes and beckers dystrophy, the calf muscles demonstrate pseudohypertrophy due to replacement with connective tissue and fat. Miyoshi myopathy mm is an autosomal recessive disease that was first described in japan 1,2 and subsequently other countries. Muscular dystrophy family foundation genetic and rare. Efficient and reproducible myogenic differentiation from. Article abstract recently we reported that mutations in a muscle protein dysferlin are present in limb girdle muscular dystrophy2b and a related, adultonset, distal dystrophy known as miyoshi myopathy mm. Miyoshi myopathy mm is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene dysf on chromosome 2p. Congenital, distal, emerydreifuss and oculopharyngeal.
Ris zotero endnote bibtex medlars procite refworks reference manager mendeley. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Pdf clinical and genetic analysis of korean patients. Meet melanie, a woman who refuses to let her miyoshi myopathy hold her back from jumping out of air planes or being a champion for mda muscle walks. Miyoshi myopathy is a type of muscular dystrophy characterized by muscle. It does not include upper motor neuron lesions, lower motor neuron lesions, myasthenia gravis which also causes muscle weakness. The myopathy resolves fully 3 to 4 weeks after discontinuing use of the drug.
Sequences located in exons are indicated by uppercase letters and in introns by lowercase letters. Individuals with lgmd generally show weakness and wasting restricted to the limb. Miyoshi myopathy definition of miyoshi myopathy by. Weiler t, greenberg cr, nylen e, halliday w, morgan k, eggertson d, wrogemann k am j hum genet 1996 oct. Exercise and lgmd2bmiyoshi myopathy jain foundation. Phenotypic features and genetic findings in 2 chinese families with miyoshi distal myopathy. Miyoshi myopathy median age of onset 19 years is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the. Facts about rare muscular dystrophies congenital, distal, emerydreifuss and oculopharyngeal updated december 2009. Adobe acrobat reader dcdownload kostenloser pdfviewer fur. Jain foundation genetic and rare diseases information. Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a. The authors studied a large russian family with both lgmd2b and mm.
Diagnostic information for lgmd2b and miyoshi myopathy clinical features. Lgmds are typically nonsyndromic, with clinical involvement typically limited to skeletal muscle. Melanie carson has peered into the grand canyon and craned her neck looking up at the giant redwoods of northern california. Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body distal muscles, such as those in the legs. Identical dysferlin mutation in limbgirdle muscular. Limbgirdle muscular dystrophy lgmd is a purely descriptive term, generally reserved for childhood or adultonset muscular dystrophies that are distinct from the much more common xlinked dystrophinopathies. Using our induced differentiation technique, we successfully recreated the pathological condition of mm in vitro, demonstrating defective membrane repair in hipscderived myotubes from an mm patient and. This guide provides an overview of congenital myopathy cm and how specific. A case series from a tertiary national referral center for neurological disorders. The first symptoms typically begin in young adulthood on average 20 years of age and include weakness and atrophy of the calves sometimes asymmetrically, leading to inability to jump, run or walk on tiptoes. Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy wasting, mainly in the distal parts of the legs. Miyoshi myopathy mm and limb girdle muscular dystrophy lgmd2b are distinct clinical entities because different muscle groups are involved at the onset. Patients with a nondysferlin miyoshi myopathy have a novel membrane repair defect jyoti k. In fact, some children with myopathies gain strength as they grow older.
Congenital myopathies italian journal of pediatrics biomed central. The case presented in this report further strengthens the underlying genetic heterogeneity in miyoshi myopathy like phenotypes and adds another family to nondysferlin, miyoshi myopathy type 3 of lateonset. Download free adobe acrobat reader dc software for your windows, mac os and android devices to view, print, and comment on pdf documents. Miyoshi myopathy mm is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p. There are eight known types of distal muscular dystrophy. The establishment of human induced pluripotent stem cells hipscs has enabled the production of in vitro, patientspecific cell models of human disease. Anderson6, isabelle richard7, sari kiuruenari8, paul l. And that is characterized by prominent involvement of the gastrocnemius muscles. Miyoshi myopathy mm is a form of muscular dystrophy that was first described in the medical literature by miyoshi in 1967. Although no specific therapies exist for dysferlinopathies, these disorders entail multiple pathways to muscle cell death, each of which is potentially a target for. Limbgirdle muscular dystrophy and miyoshi myopathy in an aboriginal canadian kindred map to lgmd2b and segregate with the same haplotype.
They are welanders distal myopathy, finnish tibial distal myopathy, miyoshi distal myopathy, nonaka distal myopathy, gowerslaing distal myopathy, hereditary inclusionbody myositis type 1, distal myopathy with vocal cord and pharyngeal weakness, and zasprelated myopathy. Long term history of a congenital corerod myopathy with compound. However, many of the lateonset limbgirdle and distal myopathies that resemble dysferlinopathy or miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis. Files are available under licenses specified on their description page. Girdle muscular dystrophy 2b, a disorder that affects. My only comfort is a fact that persons with miyoshi myopathy. Core disease ccd 1 and nemaline myopathy nm 2, are associated with unique structural.
Distal muscular dystrophy of miyoshi type springerlink. All structured data from the file and property namespaces is available under the creative commons cc0 license. Miyoshi myopathy genetic and rare diseases information. Novel duplication mutation of the dysf gene in a pakistani family with miyoshi myopathy. Here we report two patients, brother and sister, from a german family. Miyoshi myopathy mm is a rare distal myopathy that mainly occurs in japan. The care of congenital myopathies a guide for families treatnmd.
Pdfreader, pdfviewer kostenlos adobe acrobat reader dc. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Mutations of dysferlin of 2 chinese families with miyoshi distal myopathy. Miyoshi is caused by defects in the gene for the protein dysferlin. In vitro recreation of disease pathology from patientderived hipscs depends on efficient differentiation protocols producing relevant adult cell types.
The effects of exercise on lgmd2b miyoshi myopathy have not yet been studied in detail, so there is no consensus on whether exercise will help or hurt patients with the disease. Hier finden sie unsere aktuellen reiseflyer als pdfdatei zum. Dysferlinopathy includes a spectrum of muscle disease characterized by two main phenotypes. Calfhead sign in miyoshi myopathy lifestyle behaviors. Over many years, the disease has spreads to proximal and distal muscles. Furthermore, mm is the most common form of autosomal recessive distal myopathy. The typical age of onset is between 1530 years of age initial muscle weakness can occur in either. Mm is an autosomal recessive distal muscular dystrophy that arises from. In both siblings, there was an early and predominant involvement of the gastrocnemius. Two of the more common congenital myopathies, central. Calf muscle hypertrophy is also characteristically seen in lgmd 2cf sarcoglycanopathies, early on in the course of miyoshi myopathy and anoctamin5 defect and in lgmd 2i fukutinrelated protein.
Woman with miyoshi myopathy works hard, plays hard. Miyoshi myopathy mm is a congenital distal myopathy caused by defective muscle membrane repair due to mutations in dysferlin. Although first identified in japan, it occurs worldwide. Acrobat reader dc ist mit adobe document cloud verbunden, damit du uberall. Serum creatine kinase levels may be moderately high. Jaiswal1, gareth marlow2, gillian summerill2, ibrahim mahjneh3, sebastian mueller2, maria hill2, katsuya miyake4, hannelore haase5, louise v.
Although there is some uncertainty as to the actual diagnosis, the first case description of distal myopathy is usually attributed to gowers in 1902. Facts about myopathies muscular dystrophy association. During early to midadulthood, affected individuals typically begin to experience muscle. Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. The distal myopathies are a clinically and pathologically heterogeneous group of genetic disorders in which the distal muscles of the upper or lower limbs are selectively or disproportionately affected. Diagnostic information for lgmd2b and miyoshi myopathy. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin a1 and a2 in muscular dystrophies article pdf available in human mutation 263. To study dysferlin gene mutations and genotypephenotype correlations in japanese patients with miyoshi myopathy mm. Onset of the disease was at the age of 20 and 22 years, respectively. Mutations in dysferlin were recently described in patients with miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with limb. Limbgirdle muscular dystrophy with gammasarcoglycan deficiency, gammasarcoglycanopathy, lgmd2c, muscular dystrophy, duchennelike, duchennelike muscular dystrophy, autosomal recessive, type 1, dmda1, adhalin deficiency, secondary, dmda, severe childhood autosomal recessive muscular dystrophy, north african type, maghrebian myopathy, autosomal recessive limb. During early to midadulthood, affected individuals typically begin to experience muscle weakness and wasting atrophy in one or both calves.