Standard of Care
LGMD2I/R9 doesn’t
manifest suddenly.
The current standard of care for limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) does not address the underlying cause of the disease and is limited to supportive measures.1
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The primary symptoms associated with LGMD2I/R9, weakening of the proximal arm and leg muscles leads to difficulties with walking and mobility.2,3
In addition to the degradation of proximal arm and leg muscles, weakness may manifest in the scapular, peroneal, and distal limb muscles.4
Individuals with LGMD2I/R9 can present with skeletal deformities, including scoliosis and kyphosis, that can limit mobility and compromise respiratory function.4
Patients with LGMD2I/R9 are at increased risk of cardiac complications compared with other subtypes of LGMD, with cardiac involvement ranging from 10% to 50%. The severity of a patient’s cardiac involvement may not correlate with skeletal muscle involvement.4,5
Respiratory impairment is common in patients with LGMD2I/R9 and can result from weakening of the diaphragm and oropharyngeal musculature, inadequate nerve supply to these muscles, or abnormalities of the chest wall.4,6
Current management strategies focus on symptom support
Despite the lack of approved therapies, early management of serious cardiac and pulmonary comorbidities may improve life expectancy and quality of life in individuals with LGMD2I/R9. Multidisciplinary care designed specifically for patients with LGMD is necessary to provide efficient and effective long-term care.1,4
- Physical Therapy: It is recommended to prescribe physical and occupational therapy, along with assistive devices, in order to preserve mobility and function
- Orthopedic Evaluations: For patients with musculoskeletal deformities, referring to an orthopedic surgeon for monitoring and surgical intervention is recommended to optimize quality of life
- Strength and Aerobic Training: Patients with LGMD may benefit from strength and aerobic training and should be educated on the warning signs of overwork weakness
- ECG: Baseline and periodic assessments are recommended to detect cardiac involvement
- Echocardiography and Cardiac MRI: Provides detailed imaging to evaluate cardiac involvement, even if asymptomatic, to guide appropriate management
- Cardiology Consultation: Newly diagnosed patients should be referred to a cardiologist experienced in neuromuscular disorders
- Pulmonary Function Tests: It is recommended to order pulmonary function testing or refer for pulmonary evaluation
- Sleep Studies: Sleep medicine consultation is recommended for patients with excessive daytime somnolence or nonrestorative sleep
- Ventilation: Patients with respiration failure secondary to muscle weakness have experienced improved quality of life with noninvasive ventilation
Assessment Table
Domain
Assessment
Muscle Function
6MWD, NSAD7,8
Cardiac
Echocardiography, ECG, cardiac MRI4
Respiratory
Spirometry, maximal inspiratory/expiratory force, sleep studies4
Nutrition
Dietary assessments4
Psychosocial
Mental health evaluations, support services9
6MWD=6-minute walking distance; ECG=electrocardiogram; MRI=magnetic resonance imaging; NSAD=North star assessment for limb girdle‑type dystrophies.