Centronuclear myotubular myopathy orphanet journal of. They showed an adolescent boy with a slowly progressive diffuse muscular weakness, in whom the central portion of 85% of the muscle fibers was occupied by one or more nuclei with absence of myofibrils. Centronuclear myopathy is a condition characterized by muscle weakness myopathy and wasting atrophy in the skeletal muscles, which are the muscles used for movement. Congenital myopathy is a very broad term for any muscle disorder present at birth. Sproporzione congenita di tipi di fibre muscolari congenital fibre. Malignant hyperthermia and congenital myopathies giuseppa perrotta. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. The centronuclear myopathies are named for the mislocation of cell nuclei in the muscle fibers. We strongly recommend that you talk with a trusted healthcare. Links to pubmed are also available for selected references. Centronuclear myopathy cnm is a rare disease, classified in the congenital myopathy group. The disease is characterized by slowly progressive muscle weakness and joint stiffness contractures. Diseases congenital myopathies type of centronuclear. Cap myopathy is a rare congenital myopathy, characterized by the presence of peripherallyplaced, welldelimited structures resembling a cap 29.
Clinical description the disease is characterized by a severe phenotype in males presenting at birth with marked weakness, hypotonia and respiratory failure. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. Get a printable copy pdf file of the complete article 2. Congenital myopathies with central nuclei or centronuclear myopathies cnm are classically identified by histological findings on muscle biopsies, mainly by the. The birth prevalence of xlinked centronuclear myopathy xlmtm is estimated at 150,000 males. Normally, these nuclei are arranged around the periphery of the fiber. All structured data from the file and property namespaces is available under the creative commons cc0 license. Among centronuclear myopathies, the xlinked myotubular myopathy form typically presents at. Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. Epidemiological data are only available for the congenital myopathies as a group but not for specific conditions.
Clinical features are variable with forms presenting like a typical congenital myopathies and others showing prominent respiratory involvement and marked maxillofacial deformations 1. Centronuclear myopathy cnm is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. Bethlem myopathy is a rare disease affecting the skeletal muscles and connective tissue. Office of communications and public liaison national institute of neurological disorders and stroke. The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. In 11 families affected by centronuclear myopathy, we. Centronuclear myopathy genetics home reference nih. Miopatia inflamatoria y estatinas encuesta del imacs monitoring and treatment of dyslipidemia in iim. It most often affects the fingers, wrists, elbows, and ankles.
The incidence of all congenital myopathies including central core disease, multiminicore disease, nemaline myopathy and centronuclear myopathy is estimated at around 0. Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting. Full text full text is available as a scanned copy of the original print version. Myotubular myopathy is the most common and severe form of centronuclear myopathy, a type of inherited myopathy that causes problems with. Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers.
Cnm centronuclear myopathy cnmdu1 congenital neuromuscular disease with uniform type 1 fibers. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family people with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. Files are available under licenses specified on their description page. Results of the imacs survey imacsacr jdm meeting 110810 christina charlesschoeman md, ms ucla, usa. Bethlem myopathy genetic and rare diseases information. Abstract centronuclear myopathy is a rare congenital myopathy. In centronuclear myopathy, the nucleus is found at the center of many rodshaped muscle cells instead of at either end, where it is normally located. In these disorders, many of them are centrally located instead. Congenital myopathies comprise a clinical, histopathological, and. This defect primarily affects skeletal muscle fibres and causes muscular weakness andor hypotonia. Centronuclear myopathies cnm are a group of congenital myopathies where cell nuclei are abnormally located in the center of skeletal muscle cells instead of their normal location at the periphery symptoms of cnm include severe hypotonia, hypoxiarequiring breathing assistance, and scaphocephaly. Xlinked myotubular myopathy is a member of a group of disorders called centronuclear myopathy.
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