Congenital fiber-type disproportion
Última actualización 18 Aug 2020
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Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth.
Descripción
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth.
Individuals with congenital fiber-type disproportion may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).
The severity of congenital fiber-type disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that becomes apparent in adulthood. Most often, the signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delayed, many affected children eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant; X-linked. More than one pattern can apply in different cases.
Related genes
Otros nombres
CFTD
CFTDM
Congenital myopathy with fiber type disproportion
Related patient information and medicines
Patient information leaflet
Ritmos cardíacos anormales
Ageing (age-related degeneration) around the conducting fibres may cause complete heart block. A disorder of the heart muscle (cardiomyopathy). See the separate leaflets called Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy. Congenital abnormalities in el electrical pathways. Congénita means the abnormality es present from birth..
Patient information leaflet
Distrofia muscular
Genetic mutations can affect these genes, which are involved in MD. The 'faulty' gene in MD means that one of the proteins needed by muscle cells cannot be made correctly. For this reason, regular heart checks are recommended for people with Emery-Dreifuss MD. Congenital muscular dystrophy (CMD) CMD es rare (affecting about 1 in 50,000 babies). It.
Patient information leaflet
Incontinencia urinaria
Diseases or medical conditions affecting the nervous system are called neurological disorders. Other types of incontinence These include incontinence of urine when there is a birth defect (congenital abnormality) of the urinary tract, and problems that can occur after injury, accident or during operations. See the separate leaflets called Fibre.
Patient information leaflet
Dolor abdominal
Stomach pain. Belly ache. Usually, pain that you feel here will be caused by a problem in your gut. Sometimes it can be caused by problems in other organs. This leaflet is about abdominal en adults. For children, see the leaflet called Abdominal pain in children. Where can abdominal pain be felt. Abdominal pain can be felt anywhere between.
Patient information leaflet
Cuidado dietético para estoma
A person may have a stoma (colostomy or ileostomy) following an operation for bowel cancer , or other reasons such as Crohn's disease , ulcerative colitis , diverticular disease , infection or injury to the digestive system. In the first weeks after stoma surgery people sometimes experience problems as the bowel gets used to working in a new way..
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Hernia de hiato
Hernia de hiato is the term used to describe a condition where part of the estómago pushes up into the lower chest through a weakness in the diaphragm. Not everyone with a hiatus hernia develops symptoms. However, if you have a hiatus hernia you are more prone to reflux ac... For example, people with scoliosis or kyphosis. There is a rare type of.
Lecturas adicionales y referencias
- Congenital fiber-type disproportion; MedlinePlus, National Library of Medicine.
- Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52. doi: 10.1002/ana.20761.
- Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.
- Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 Jul;31(7):E1544-50. doi: 10.1002/humu.21278.
- Clarke NF. Congenital fiber-type disproportion. Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008.
- Imoto C, Nonaka I. The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders. Brain Dev. 2001 Aug;23(5):298-302. doi: 10.1016/s0387-7604(01)00213-3.
- Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, Shimakawa S, Hagiwara T, Ouvrier R, Sparrow JC, Nishino I, North KN, Nonaka I. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol. 2004 Nov;56(5):689-94. doi: 10.1002/ana.20260.
- Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157.
- Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmuller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Gronholm M, Wallgren-Pettersson C. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.
- Ortolano S, Tarrio R, Blanco-Arias P, Teijeira S, Rodriguez-Trelles F, Garcia-Murias M, Delague V, Levy N, Fernandez JM, Quintans B, Millan BS, Carracedo A, Navarro C, Sobrido MJ. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.
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