Limb-Girdle Muscular Dystrophy (LGMD)

Medical Management

The management of limb-girdle muscular dystrophy (LGMD) is supportive; no disease-modifying treatments are available. Goals of therapy include maintaining mobility and functional independence, managing associated complications, and maximizing quality of life. Multidisciplinary treatment at centers with experience in neuromuscular disorders is recommended to provide optimal care.

Assistive devices

Simple devices like a cane or a long-handled reacher can make walking and accomplishing tasks easier as weakness progresses.

A power wheelchair or scooter becomes convenient when weakness in the pelvic girdle and upper legs causes frequent falls. People whose LGMD has reached this stage often find that a great deal of their independence returns and fatigue is greatly reduced when they begin using this type of mobility equipment.

Heart, respiration, and diet

The heart can be affected in several LGMDs, including LGMD1B and LGMD2A-I, but this does not occur as often as it does in some other forms of muscular dystrophy. Heart problems can take two forms — weakness of the heart muscle (cardiomyopathy) and abnormal transmission of signals that regulate the heartbeat (conduction abnormalities or arrhythmias). The heart should be monitored for these complications with examination, electrocardiogram (ECG), and structural heart studies with echocardiography or cardiac magnetic resonance imaging (MRI) to guide management. When necessary, medications or devices (such as pacemakers) can be used to treat heart complications. Heart transplantation may be needed for those who developed severe congestive heart failure.

Respiratory (breathing) function can decline over time, and this, too, should be monitored regularly. Some LGMDs (eg, LGMD2I) are associated with weakness of respiratory or oropharyngeal muscles¹ and an increased risk of respiratory failure with disease progression. Patients with LGMD who have evidence of respiratory insufficiency, daytime sleepiness, or symptoms of sleep-disordered breathing may benefit from noninvasive ventilation, which includes devices that can help sustain respiratory function. For more on this topic, see Simple and Safe: Noninvasive volume ventilation systems go beyond 'BiPAP', written by a man with LGMD.

Dysphagia (difficulty with swallowing) and arm weakness associated with LGMDs can lead to malnutrition.¹ Patients with inadequate intake, swallowing problems, aspiration (when food, saliva, liquids, or vomit is breathed into the lungs instead of being swallowed into the esophagus), or weight loss should be evaluated with swallowing studies or referred to a gastroenterologist. Such patients may benefit from techniques to improve swallowing, such as altering food consistency or the use of a chin tuck maneuver, or placement of a feeding tube. No special dietary restrictions or additions are known to directly affect the course of LGMD. A doctor may advise a weight-reduction or weight-stabilization diet for some people because being markedly overweight puts greater stress on already-weakened muscles.

Therapy and exercise

Physical and occupational therapy programs are usually part of the treatment for LGMD. Occupational therapy focuses on specific activities and functions, particularly use of the hands, while physical therapy emphasizes mobility and (where possible) strengthening of large muscle groups. Your MDA Care Center’s physician may refer you to the therapy department at your medical center for a thorough evaluation and an individualized exercise program.

The primary goals of physical therapy are to allow greater motion in the joints and to prevent contractures. These problems can arise when movement is limited, so it is important for patients to continue to move as much as they can.These problems can arise when movement is limited, and it is important for the patient’s comfort and function to avoid them.

In occupational therapy, the focus is on improving abilities related to work, recreation, or daily living. For example, arm supports can make tasks such as using a computer or fixing your hair less tiring.

Doctors and therapists have somewhat different opinions on the relative value or danger of various exercise regimens in people with muscular dystrophy. In LGMD, certain kinds of stress-causing exercises may hasten muscle damage. Patients with muscular dystrophy should maintain adequate hydration; avoid supramaximal, high-intensity exercise; and avoid exercising to exhaustion.

Some experts recommend swimming and water exercises as a good way to keep muscles as toned as possible without causing undue stress. The buoyancy of the water helps protect against certain kinds of muscle strain and injury. Before undertaking an exercise program, make sure you have had a cardiac evaluation, and do not swim alone. For more on exercise, see Exercising with a Muscle Disease.

Orthopedic complications

Patients with LGMD are at increased risk for musculoskeletal spine deformities, including kyphosis (hunchback-like curving) or scoliosis (side deviation of the spine).¹ Patients who develop spine deformities should be referred to an orthopedic specialist for evaluation and surgery, if needed, to maintain optimal posture, mobility, heart, and respiratory function.

To learn more, read The Changing Landscape of LGMD Research and AAN Releases Guideline for LGMD Diagnosis and Care (October 2014).

References

1. Narayanaswami, P. et al. Evidence-based guideline summary?: Diagnosis and treatment of limb-girdle and distal dystrophies. Neurology (2014).