Rigid spine muscular dystrophy
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Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.
Descrizione
Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.
In RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.
A characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.
The combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Congenital muscular dystrophy with spine rigidity syndrome
Muscular dystrophy, congenital, merosin-positive, with early spine rigidity
Rigid spinal muscular dystrophy
Rigid spine congenital muscular dystrophy
RSMD
Related patient information and medicines
Patient information leaflet
Debolezza muscolare
It is also seen in a condition called muscular dystrophy (discussed further below). Condizioni legate alla colonna vertebrale : When nerves sono damaged as they emerge from the spine (such as when people 'slip' a disc in the lower back or neck), weakness can result. When the di... Rare causes of muscular weakness Genetic conditions affecting muscles Muscular.
Patient information leaflet
Scoliosi e cifosi
Scoliosis is a back condition that causes the (back) spine to curve to the side - either left or right. Adolescent kyphosis, is known as Scheuermann's disease.This type of kyphosis is caused by the wedging together in a row of several bones (vertebrae) of the back (spine). This means the curve is caused by a condition which affects muscles or.
Patient information leaflet
Pianificare una gravidanza
Studies have shown that having very long or very short gaps between pregnancies can result in problems during pregnancy. The general advice is that waiting between 18 and 23 months before becoming pregnancy again results in the best outcomes. Folic acid tablets in early pregnancy reduce the risk of having a baby born with a spinal cord problem.
Patient information leaflet
Distrofia muscolare
Distrofia muscolare è an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. What is muscular dystrophy. Muscular dystrophy (MD) is the name given to a group of.
Patient information leaflet
distrofia muscolare di Duchenne
distrofia muscolare di Duchenne è a condition which causes progressive muscle weakness. It starts in childhood and may be noticed when a child has difficulty standing up, climbing or running. It is a genetic condition and can be inherited. What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited (genetic) condition which.
Patient information leaflet
Test genetici
It can identify changes in the number of chromosomes ( for example, Down's syndrome in which there is an extra chromosome number 21). Fluorescent in situ hybridisation (FISH) analysis - this test looks at certain parts of the chromosomes and can detect very small pieces of chromosomes that are either missing or extra ( for example, Duchenne.
Ulteriori letture e riferimenti
- Rigid spine muscular dystrophy; MedlinePlus, National Library of Medicine.
- Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16.
- Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P, Cutrera R, Ferreiro A, Estournet B, Quijano-Roy S, Fauroux B. Diaphragmatic dysfunction in SEPN1-related myopathy. Neuromuscul Disord. 2017 Aug;27(8):747-755. doi: 10.1016/j.nmd.2017.04.010. Epub 2017 Apr 26.
- Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.
- Castets P, Lescure A, Guicheney P, Allamand V. Selenoprotein N in skeletal muscle: from diseases to function. J Mol Med (Berl). 2012 Oct;90(10):1095-107. doi: 10.1007/s00109-012-0896-x. Epub 2012 Apr 14.
- Koul R, Al-Yarubi S, Al-Kindy H, Al-Futaisi A, Al-Thihli K, Chacko PA, Sankhla D. Rigid spinal muscular dystrophy and rigid spine syndrome: report of 7 children. J Child Neurol. 2014 Nov;29(11):1436-40. doi: 10.1177/0883073813479173. Epub 2013 Mar 12.
- Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713.
- Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tome FM, Guicheney P. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. Neuromuscul Disord. 1999 Oct;9(6-7):376-82. doi: 10.1016/s0960-8966(99)00051-6.
- Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011 Jun 14;76(24):2073-8. doi: 10.1212/WNL.0b013e31821f467c.
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