| Limb-girdle muscular dystrophy is known | | | | These comprise proteins linked with the |
| hereditarily heterogeneous. LGMD2A is caused by | | | | sarcolemma, proteins associated with the |
| mutations on chromosome 15 in the calpain-3 | | | | contractile apparatus, and many enzymes involved |
| gene. There are at least 19 forms of LGMD, and | | | | in muscle function. However, although the main |
| they’re classified by the inherited flaws that | | | | defect in many LGMDs is known, the exact |
| show to cause them. All limb-girdle muscular | | | | mechanism leading to the dystrophic phenotype |
| dystrophies (LGMD) show a similar distribution of | | | | has not always been clarified. Specific protein |
| muscle weakness, affecting both upper arms and | | | | function and abnormalities are discussed below |
| legs. Limb-girdle muscular dystrophy can begin in | | | | with each LGMD. No specific treatment is available |
| childhood, adolescence, young adulthood or even | | | | for any of the LGMD syndromes. Treatment for |
| later. Both genders are affected equally. When | | | | LGMD, mainly involving physical assistive devices, |
| limb-girdle muscular dystrophy begins in childhood. | | | | and monitoring for heart and breathing |
| It’s not yet possible to predict the course of | | | | complications, is basically the same in all forms of |
| LGMD in an individual. | | | | the disease. |
| Some forms of the disorder progress to loss of | | | | Management to prolong survival and improve |
| walking ability within a few years and cause | | | | quality of life includes weight control to avoid |
| sedate disability, while others progress very | | | | obesity, physical therapy and stretching exercises |
| gradually over many years and cause minimal | | | | to encourage mobility and prevent contractures. |
| disability. Signs and symptoms muscular dystrophy | | | | Use of mechanical aids to help ambulation and |
| symptoms may involve muscle weakness, | | | | mobility. Patients who develop an equinus foot |
| apparent lack of coordination and progressive | | | | deformity can benefit from tendon lengthening |
| crippling, resulting in fixations (contractures) of the | | | | surgery and/or knee-ankle-foot orthoses or |
| muscles around your joints and loss of mobility. | | | | ankle-foot orthoses to maintain mobility. |
| Limb-girdle muscular dystrophy (LGMD) protein | | | | Orthopedic surgery may be required to assist |
| defects occur in several pathways involved in the | | | | correct or prevent contractures and scoliosis. |
| biologic function of muscle and can be divided into | | | | Genetic counseling is frequently helpful to patients |
| groups based on cellular localization. | | | | and families to help in family-planning decisions. |