Distrofia muscolare dei cingoli
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The limb-girdle muscular dystrophies are a group of diseases that cause muscle weakness (myopathy) and wasting (atrophy). The muscles that are most affected are those closest to the center of the body (proximal muscles), specifically the muscles of the shoulders, upper arms, hips, and thighs. Signs and symptoms may appear as early as childhood and typically worsen over time.
Descrizione
The limb-girdle muscular dystrophies are a group of diseases that cause muscle weakness (myopathy) and wasting (atrophy). The muscles that are most affected are those closest to the center of the body (proximal muscles), specifically the muscles of the shoulders, upper arms, hips, and thighs. Signs and symptoms may appear as early as childhood and typically worsen over time.
The severity, age of onset, and specific features of limb-girdle muscle dystrophy vary among affected individuals, even among members of the same family.
In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet. Walking this way for an extended period of time can cause overgrowth (hypertrophy) of the calf muscles. Affected individuals may also have difficulty running. They may need to use their arms to push themselves up from a squatting position because of their weak thigh muscles. Over time, as myopathy and atrophy worsen, people with limb-girdle muscular dystrophy may require wheelchair assistance.
Muscle atrophy may cause changes in posture or in the appearance of the shoulders, back, and arms. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Weak back muscles may also cause an affected individual to have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some affected individuals develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows.
A weakening of the heart muscle (cardiomyopathy) occurs in some people with limb-girdle muscular dystrophy. If the weakness affects the muscles needed for breathing, affected individuals may have mild to severe breathing problems. In some cases, affected individuals need a machine to help them breathe (mechanical ventilation).
Intelligence is generally not affected in people with limb-girdle muscular dystrophy. However, developmental delays and intellectual disabilities have been reported in some affected individuals who have signs and symptoms that are more severe or that appear earlier in life.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
LGMD
Limb-girdle syndrome
Myopathic limb-girdle syndrome
Related patient information and medicines
Patient information leaflet
Distrofia muscolare
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. Muscular dystrophy (MD) is the name given to a group of disorders which cause progressive muscle weakness (meaning it gets worse over time). Rarely, women or girls with the Becker gene may have muscle weakness... Limb-girdle muscular dystrophy (LGMD) LGMDs cause.
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Sindrome di Ehlers-Danlos
The Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. They vary in their impact from very mild through to very severe. What are the Ehlers-Danlos syndromes. Women with EDS who need to protect their joints.
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Debolezza muscolare
It is also seen in a condition called distrofia muscolare (discussed further below). B... 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 most common is Distrofia muscolare di Duchenne. This occurs in children.
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Test genetici
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Sindrome di Guillain-Barré
Guillain-Barré syndrome affects the nerves of the limbs and body and is usually triggered by an infection. The main symptom is sudden onset weakness of the muscles that are supplied by the affected nerves. What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) is a disease that affects nerves throughout the body and limbs. It is usually.
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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
- Distrofia muscolare dei cingoli; MedlinePlus, National Library of Medicine.
- Angelini C, Giaretta L, Marozzo R. An update on diagnostic options and considerations in limb-girdle dystrophies. Expert Rev Neurother. 2018 Sep;18(9):693-703. doi: 10.1080/14737175.2018.1508997. Epub 2018 Aug 21.
- Angelini C. Calpainopathy. 2005 May 10 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1313/
- Aoki M, Takahashi T. Dysferlinopathy. 2004 Feb 5 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1303/
- Bouchard C, Tremblay JP. Limb-Girdle Muscular Dystrophies Classification and Therapies. J Clin Med. 2023 Jul 19;12(14):4769. doi: 10.3390/jcm12144769.
- Chu ML, Moran E. The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? Neurotherapeutics. 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x.
- Khadilkar SV, Patel BA, Lalkaka JA. Making sense of the clinical spectrum of limb girdle muscular dystrophies. Pract Neurol. 2018 Jun;18(3):201-210. doi: 10.1136/practneurol-2017-001799. Epub 2018 Feb 22.
- Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018 Aug;58(2):167-177. doi: 10.1002/mus.26077. Epub 2018 Feb 7.
- Liu W, Pajusalu S, Lake NJ, Zhou G, Ioannidis N, Mittal P, Johnson NE, Weihl CC, Williams BA, Albrecht DE, Rufibach LE, Lek M. Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases. Genet Med. 2019 Nov;21(11):2512-2520. doi: 10.1038/s41436-019-0544-8. Epub 2019 May 20.
- Mah JK, Korngut L, Fiest KM, Dykeman J, Day LJ, Pringsheim T, Jette N. A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311.
- Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol. 2012 Dec;19(4):211-8. doi: 10.1016/j.spen.2012.09.008.
- Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. Epub 2024 Aug 30.
- Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec.
- Poudel BH, Fletcher S, Wilton SD, Aung-Htut M. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities. Int J Mol Sci. 2024 May 21;25(11):5572. doi: 10.3390/ijms25115572.
- Straub V, Murphy A, Udd B; LGMD workshop study group. 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. No abstract available.
- Thompson R, Straub V. Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol. 2016 May;12(5):294-309. doi: 10.1038/nrneurol.2016.35. Epub 2016 Apr 1.
- Wicklund MP, Kissel JT. The limb-girdle muscular dystrophies. Neurol Clin. 2014 Aug;32(3):729-49, ix. doi: 10.1016/j.ncl.2014.04.005.
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