Tibial muscular dystrophy
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Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking.
Beskrivning
Tibial muscular dystrophy is a condition that affects the muscles at the front of the lower leg. The signs and symptoms of this condition typically appear after age 35. The first sign is usually weakness and wasting (atrophy) of a muscle in the lower leg called the tibialis anterior. This muscle helps control up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes it difficult or impossible to walk on the heels, but it usually does not interfere significantly with regular walking.
Muscle weakness worsens very slowly in people with tibial muscular dystrophy. Ten to 20 years after the onset of symptoms, weakness may develop in muscles that help extend the toes (long-toe extensors). Weakness in these muscles makes it difficult to lift the toes while walking, a condition known as foot drop. Later in life, about one third of people with tibial muscular dystrophy experience mild to moderate difficulty with walking because of weakness in other leg muscles. However, most affected individuals remain able to walk throughout their lives.
A small percentage of people with tibial muscular dystrophy have a somewhat different pattern of signs and symptoms than those described above. Starting in childhood, these individuals may have generalized muscle weakness, weakness and atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and weakness affecting muscles in the arms.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Tardive tibial muscular dystrophy
TMD
Udd distal myopathy
Udd myopathy
Udd-Markesbery muscular dystrophy
Related patient information and medicines
Patient information leaflet
Plattfot och nedsjunkna fotvalv
Conditions affecting the joints and soft tissues, including arthritis. Some conditions affecting the nerves such as cerebral palsy , Parkinson's disease and muskeldystrofi , in which muscles become stiffer and weaker over time. Other causes of flat feet Flat feet are more likely to develop in people with: Obesity - the additional weight will.
Patient information leaflet
Muskelsvaghet
It is also seen in a condition called muskeldystrofi (discussed further below). Rare causes of muscular weakness Genetic conditions affecting muscles Muscular dystrophies : These are inherited diseases which affect muscles. They are rare disorders but the best known and most common is Duchenne muscular dystrophy. Myotonic dystrophy : This is a.
Patient information leaflet
Muskeldystrofi
Muskeldystrofi is 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. Muskeldystrofi (MD) is the name given to a group of.
Patient information leaflet
Genetisk testning
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.
Patient information leaflet
Osgood-Schlatters sjukdom
Osgood-Schlatters sjukdom is a condition that causes swelling and pain just below the knee. It is most common in teenagers who play sport. What is Osgood-Schlatter disease. Osgood-Schlatters sjukdom is a condition that affects the upper part of the shin bone (tibia). Overuse of the quadriceps muscle (the muscle on the front of the thigh) can cause.
Patient information leaflet
Skolios och kyfos
Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. Scoliosis is usually mild and needs no treatment. Neuromuscular scoliosis. 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 muskeldystrofi , polio ,.
Vidare läsning och referenser
- Tibial muscular dystrophy; MedlinePlus, National Library of Medicine.
- de Seze J, Udd B, Haravuori H, Sablonniere B, Maurage CA, Hurtevent JF, Boutry N, Stojkovic T, Schraen S, Petit H, Vermersch P. The first European family with tibial muscular dystrophy outside the Finnish population. Neurology. 1998 Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746.
- Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med. 2003;35(6):434-41. doi: 10.1080/07853890310012797.
- Hackman P, Marchand S, Sarparanta J, Vihola A, Penisson-Besnier I, Eymard B, Pardal-Fernandez JM, Hammouda el-H, Richard I, Illa I, Udd B. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22.
- Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26.
- Pollazzon M, Suominen T, Penttila S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B. The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol. 2010 Apr;257(4):575-9. doi: 10.1007/s00415-009-5372-3. Epub 2009 Nov 13.
- Udd B, Hackman P. Udd Distal Myopathy - Tibial Muscular Dystrophy. 2005 Feb 17 [updated 2020 Jan 2]. 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/NBK1323/
- Udd B, Haravuori H, Kalimo H, Partanen J, Pulkkinen L, Paetau A, Peltonen L, Somer H. Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. Neuromuscul Disord. 1998 Jun;8(5):327-32. doi: 10.1016/s0960-8966(98)00024-8.
- Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkila H, Ingo S, Kalimo H, Kaariainen H, Laulumaa V, et al. Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol. 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015.
- Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi: 10.1016/S0072-9752(07)86011-8. No abstract available.
- Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Tibial muscular dystrophy in a Belgian family. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Feb 2012 | Ursprungligen publicerad
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