LMNA-related congenital muscular dystrophy
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
Descrizione
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy) beginning very early in life.
In people with L-CMD, muscle weakness becomes apparent in infancy or early childhood and can worsen quickly. The most severely affected infants develop few motor skills, and they are never able to hold up their heads, roll over, or sit. Less severely affected children may learn to sit, stand, and walk before muscle weakness becomes apparent. First the neck muscles weaken, causing the head to fall forward (dropped-head syndrome). As other skeletal muscles become weaker, these children may ultimately lose the ability to sit, stand, and walk unassisted.
Other features of L-CMD often include spinal rigidity and abnormal curvature of the spine (scoliosis and lordosis); joint deformities (contractures) that restrict movement, particularly in the hips and legs; and an inward-turning foot. People with L-CMD also have an increased risk of heart rhythm abnormalities (arrhythmias).
Over time, muscle weakness causes most infants and children with L-CMD to have trouble eating and breathing. The breathing problems result from restrictive respiratory insufficiency, which occurs when muscles in the chest are weakened and the ribcage becomes increasingly rigid. This problem can be life-threatening, and many affected children require support with a machine to help them breathe (mechanical ventilation).
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
L-CMD
LMNA-related CMD
MDCL
Muscular dystrophy, congenital, LMNA-related
Related patient information and medicines
Patient information leaflet
Distrofia muscolare
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of m... Muscular dystrophy (MD) is the name given to a group of disorders which cause progressive muscle weakness (meaning it gets worse over time). For this reason, regular heart checks are recommended for people with Emery-Dreifuss MD..
Patient information leaflet
Debolezza muscolare
It is also seen in a condition called distrofia muscolare (discussed further below). Depression and anxiety are more common in people with Parkinson's disease. Rare causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare Sintomi dei disturbi della tiroide but the best known and.
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. It usually affects ... What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited.
Patient information leaflet
Pianificare una gravidanza
This leaflet offers advice per le donne who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made..
Patient information leaflet
Gas nel sangue arterioso
There are many reasons why this might happen. For example, this may be because of a neurological or muscular disease - myasthenia gravis , Guillain-Barré syndrome , distrofia muscolare , or a problem with the respiratory system such as an asthma attack or worsening of chronic obstructive pulmonary disease (COPD). Causes of respiratory alkalosis.
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. Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. This means the curve is caused by a condition which affects muscles or nerves of the back. For example, it may happen in some people with.
Ulteriori letture e riferimenti
- LMNA-related congenital muscular dystrophy; MedlinePlus, National Library of Medicine.
- Azibani F, Brull A, Arandel L, Beuvin M, Nelson I, Jollet A, Ziat E, Prudhon B, Benkhelifa-Ziyyat S, Bitoun M, Lorain S, Bonne G, Bertrand AT. Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids. 2018 Mar 2;10:376-386. doi: 10.1016/j.omtn.2017.12.012. Epub 2017 Dec 30.
- Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Heron D, Vigouroux C, Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan 26;12(1):e0169189. doi: 10.1371/journal.pone.0169189. eCollection 2017.
- Bonati U, Bechtel N, Heinimann K, Rutz E, Schneider J, Frank S, Weber P, Fischer D. Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. Neuromuscul Disord. 2014 Jun;24(6):529-32. doi: 10.1016/j.nmd.2014.02.004. Epub 2014 Feb 15.
- D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005 Aug;15(8):521-4. doi: 10.1016/j.nmd.2005.03.006.
- Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord. 2012 Feb;22(2):149-51. doi: 10.1016/j.nmd.2011.08.009. Epub 2012 Jan 11.
- Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bonnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. Cardiol Young. 2017 Aug;27(6):1076-1082. doi: 10.1017/S1047951116002079. Epub 2016 Dec 12.
- Karaoglu P, Quizon N, Pergande M, Wang H, Polat AI, Ersen A, Ozer E, Willkomm L, Hiz Kurul S, Heredia R, Yis U, Selcen D, Cirak S. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev. 2017 Apr;39(4):361-364. doi: 10.1016/j.braindev.2016.11.002. Epub 2016 Nov 19.
- Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4.
- Pasqualin LM, Reed UC, Costa TV, Quedas E, Albuquerque MA, Resende MB, Rutkowski A, Chadi G, Zanoteli E. Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. Pediatr Neurol. 2014 Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010. Epub 2013 Nov 21.
- Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016.
- Quijano-Roy S, Mbieleu B, Bonnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417.
- Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Beroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15.
Storia dell'articolo
Articolo disponibile anche in Inglese, Tedesco, Spagnolo, Francese, Italiano, Portoghese, Hindi, Ebraico, Arabo, and Svedese.
18 Ago 2020 | Ultima versione
1 maggio 2018 | Pubblicato originariamente
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.