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Tibial muscular dystrophy

Reviewed February 2012

What is tibial muscular dystrophy?

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.

How common is tibial muscular dystrophy?

Tibial muscular dystrophy is most common in Finland, where it is estimated to affect at least 10 per 100,000 people. This condition has also been found in people of Finnish descent living in other countries.

Additionally, tibial muscular dystrophy has been identified in several European families without Finnish ancestry.

What genes are related to tibial muscular dystrophy?

Mutations in the TTN gene cause tibial muscular dystrophy. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle.

Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.

Mutations in the TTN gene alter the structure and function of titin. Researchers suspect that these changes may disrupt titin's interactions with other proteins within sarcomeres. Mutations may also interfere with the protein's role in chemical signaling. The altered titin protein disrupts normal muscle contraction, which causes muscles to weaken and waste away over time. It is unclear why these effects are usually limited to muscles in the lower legs.

Related Gene(s)

Changes in this gene are associated with tibial muscular dystrophy.

  • TTN

How do people inherit tibial muscular dystrophy?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In most cases, an affected person has one parent with the condition.

Where can I find information about diagnosis or management of tibial muscular dystrophy?

These resources address the diagnosis or management of tibial muscular dystrophy and may include treatment providers.

  • Gene Review: Udd Distal Myopathy (http://www.ncbi.nlm.nih.gov/books/NBK1323/)
  • Genetic Testing Registry: Distal myopathy Markesbery-Griggs type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838244)

You might also find information on the diagnosis or management of tibial muscular dystrophy in Educational resources (http://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about tibial muscular dystrophy?

You may find the following resources about tibial muscular dystrophy helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Lower Leg Muscles (image) (http://www.nlm.nih.gov/medlineplus/ency/imagepages/9887.htm)
    • Health Topic: Muscular Dystrophy (http://www.nlm.nih.gov/medlineplus/musculardystrophy.html)

  • Additional NIH Resources - National Institutes of Health

    • National Institute of Neurological Disorders and Stroke: Foot Drop Information Page (http://www.ninds.nih.gov/disorders/foot_drop/foot_drop.htm)
    • National Institute of Neurological Disorders and Stroke: Myopathy Information Page (http://www.ninds.nih.gov/disorders/myopathy/myopathy.htm)

  • Educational resources - Information pages

    • Neuromuscular Disease Center, Washington University (http://neuromuscular.wustl.edu/musdist/distal.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=609)

  • Patient support - For patients and families

    • Muscular Dystrophy Association: Facts About Rare Muscular Dystrophies (http://mda.org/sites/default/files/publications/Facts_RareMDs_P-214_0.pdf)
    • Muscular Dystrophy Campaign (UK) (http://www.muscular-dystrophy.org/)
    • Muscular Dystrophy Canada (http://www.muscle.ca/)
    • National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1180/viewAbstract)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1323/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Distal myopathy Markesbery-Griggs type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1838244)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((udd%5BTIAB%5D)%20AND%20(myopathy%5BTIAB%5D))%20OR%20(tibial%20muscular%20dystrophy%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/600334)

What other names do people use for tibial muscular dystrophy?

  • tardive tibial muscular dystrophy
  • TMD
  • Udd distal myopathy
  • Udd-Markesbery muscular dystrophy
  • Udd myopathy

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about tibial muscular dystrophy?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding tibial muscular dystrophy?

actin ; anterior ; atrophy ; autosomal ; autosomal dominant ; cardiac ; cell ; contraction ; distal ; foot drop ; gene ; muscular dystrophy ; myosin ; protein ; sign ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • de Seze J, Udd B, Haravuori H, Sablonnière 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. (http://www.ncbi.nlm.nih.gov/pubmed/9855539?dopt=Abstract)
  • Gene Review: Udd Distal Myopathy (http://www.ncbi.nlm.nih.gov/books/NBK1323/)
  • Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med. 2003;35(6):434-41. (http://www.ncbi.nlm.nih.gov/pubmed/14572168?dopt=Abstract)
  • Hackman P, Marchand S, Sarparanta J, Vihola A, Pénisson-Besnier I, Eymard B, Pardal-Fernández 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. (http://www.ncbi.nlm.nih.gov/pubmed/18948003?dopt=Abstract)
  • 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. Epub 2002 Jul 26. (http://www.ncbi.nlm.nih.gov/pubmed/12145747?dopt=Abstract)
  • Pollazzon M, Suominen T, Penttilä 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. (http://www.ncbi.nlm.nih.gov/pubmed/19911250?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/9673987?dopt=Abstract)
  • Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen 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. (http://www.ncbi.nlm.nih.gov/pubmed/8503797?dopt=Abstract)
  • Udd B. Distal myopathies. Handb Clin Neurol. 2007;86:215-41. doi: 10.1016/S0072-9752(07)86011-8. (http://www.ncbi.nlm.nih.gov/pubmed/18809003?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12891679?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2012
Published: May 20, 2013