Limb-Girdle Muscular Dystrophy Health Article
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Treatment and management
Physical therapy and exercises can often help keep the muscles and joints mobile and prevent contractures. Muscle and joint pain can be treated through exercise, warm baths, and pain medications. Surgical treatment of complications, such as a curved spine, may be necessary. Breathing exercises can sometimes help if breathing becomes difficult. If breathing independently becomes impossible, a portable mechanical ventilator can be used. A wheelchair or scooter can help when a person can no longer walk. Medications are often prescribed for cardiomyopathies and heart conduction defects. A device such as a pacemaker that creates normal contractions of the heart muscle may be necessary for some people with heart muscle abnormalities.
Gene therapy may one day cure or improve LGMD. Gene therapy introduces unchanged copies of a LGMD gene into the muscle cells. The goal of therapy is for the normal LGMD gene to produce normal protein that will allow the muscle cells to function normally. Gene therapy clinical trials are still in their infancy. It will take quite a few years, however, for gene therapy to become a viable way to treat LGMD.
TABLE 3
Symptoms of the limb-girdle muscular dystrophies
| Type | Age of Onset | Early Symptoms | Late Symptoms |
| *Includes alpha, beta, gamma and delta sarcoglycanopathies that result in complete absence of a sarcoglycan protein | |||
| **Includes alpha, beta, gamma and delta sarcoglycanopathies that result in decreased amounts of a sarcoglycan protein | |||
| *Sarcoglycanopathy (complete deficiency) | 3–15 years (8.5 average) | Proximal weakness; Difficulty walk/run; Enlarged calf muscle | Contractures; Curvature in the spine; Wheelchair dependence; Possible Cardiac conduction defect; Dilated cardiomyopathy |
| **Sarcoglycanopathy (partial deficiency | Adolescence/Young adulthood | Muscle cramps; Intolerance to exercise | |
| Calpainopathy | 2–40 years (8–15 average) | Proximal weakness; Jutting backwards of shoulder blades (scapular winging); Decreased size of calf muscles; Contractures; Curvature in the spine | Wheelchair dependence |
| Dysferlinopathy | 17–23 years | Some patients have distal weakness and some have proximal weakness; Inability to tip-toe; Difficulties walk/run | |
| Telethoninopathy | Early teens | Wheelchair dependence | |
| LGMD2H | 8–27 years | Wheelchair dependence | |
| LGMD2I | 1.5–27 years | Wheelchair dependence | |
| LGMD1A | 18–35 years | Proximal leg and arm weakness; Tight Achilles tendon; Problems with articulation of speech; Nasal sounding speech | Distal weakness |
| LGMD1B | 4–38 years (50% onset childhood) | Proximal lower limb weakness; | Contractures; Irregular heart beat; Sudden death due to cardiac problems (if untreated) |
| LGMD1D | <25 years Proximal muscle weakness; Cardiac conduction defect; Dilated cardiomyopathy | All patients remain able to walk | |
| LGMD1E | 9–49 years (30 average) | Proximal lower and upper limb muscle weakness | Contractures; Difficulties swallowing |
| Caveolinopathy | Approx. 5 years | Mild to moderate proximal weakness; Muscle cramping; Enlargement of the calf muscles; Some have no symptoms | |
| Bethlem myopathy | <2 years | Floppy muscles in infancy; Proximal muscle weakness; Contractures | 2/3 of patents are wheelchair dependent by age 50 |
Prognosis
The prognosis of LGMD varies tremendously. Most people with LGMD, however, do not have severe symptoms and most experience a normal life expectancy. Cardiac and respiratory difficulties can, however, decrease the lifespan.
PERIODICALS
Bushby, K. "Making Sense of the Limb-girdle Muscular Dystrophies." Brain 122 (1999): 1403–1420.
Kirschner, J, and C. G. Bonnemann. "The Congenital and Limb-girdle Muscular Dystrophies: Sharpening the Focus, Blurring the Boundaries." Arch Neurol 61, no. 2 (2004): 189–199.
Laval, S. H., and K. M. Bushby. "Limb-girdle Muscular Dystrophies—From Genetics to Molecular Pathology." Neuropathology and Applied Neurobiology 30 (2004): 91–105.
Zatz, M., M. Vainzof, and M. R. Passos-Bueno. "Limb-girdle Muscular Dystrophy: One Gene with Different Phenotypes, One Phenotype with Different Genes." Current Opinion in Neurology 13, no. 5 (October 2000): 511–517.
ORGANIZATIONS
Muscular Dystrophy Association. 3300 East Sunrise Dr., Tucson, AZ 85718. (520) 529-2000 or (800) 572-1717. <http://www.mdausa.org/>.
Muscular Dystrophy Association Canada. 2345 Yonge St., Suite 900, Toronto, ONT M4P 2E5, Canada. (416) 488-2699. E-mail: info@mdac.ca. (April 21, 2005.) <http://www.mdac.ca/>.
Muscular Dystrophy Campaign. 7-11 Prescott Place, London, SW4 6BS, United Kingdom. +44(0) 7720 8055. E-mail: info@muscular-dystrophy.org. (April 21, 2005.) <http://www.muscular-dystrophy.org/>.
WEB SITES
Gordon, Erynn, Elena Pegoraro, and Eric Hoffman. "Limb-girdle Muscular Dystrophy Overview." Gene Clinics. (April 21, 2005.) <http://www.geneclinics.org/profiles/lgmd-overview/index.html>.
Suzanne M. Carter, MS, CGC
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Author Info: Suzanne M. Carter MS, CGC, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005 |
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