Standard of Care

LGMD2I/R9 TYPICALLY
PROGRESSES GRADUALLY

Limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) progresses over time and is typically managed with ongoing monitoring and support from a multidisciplinary care team. As a type of neuromuscular condition, care is tailored to each individual. It focuses on managing symptoms such as progressive muscle weakness and muscle loss in the legs, which may develop gradually but sometimes become suddenly noticeable to patients, in order to help maintain mobility and everyday function.1,2

Because progression can vary from person to person, regular functional monitoring—including checks of muscle strength, mobility, as well as cardiac and respiratory health—is an important part of ongoing care.1,3,4

Explore to learn more:

The primary symptoms associated with LGMD2I/R9, weakening of the proximal arm and leg muscles leads to difficulties with walking and mobility.3,5

In addition to the degradation of proximal arm and leg muscles, weakness may manifest in the scapular, peroneal, and distal limb muscles.1

Individuals with LGMD2I/R9 can present with skeletal deformities, including scoliosis and kyphosis, that can limit mobility and compromise respiratory function.1

Patients with LGMD2I/R9 are at increased risk of cardiac complications compared with other subtypes of LGMD, with cardiac involvement ranging from ~30% to 60%. The severity of a patient’s cardiac involvement may not correlate with skeletal muscle involvement.

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.1,7

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 limb-girdle muscular dystrophy (LGMD) is necessary to provide efficient and effective long-term care.1,4

Assessment Table

Domain

Assessment

Muscle Function

6MWD, NSAD8,9

Cardiac

Echocardiography, ECG, cardiac MRI1

Respiratory

Spirometry, maximal inspiratory/expiratory force, sleep studies1

Nutrition

Dietary assessments1

Psychosocial

Mental health evaluations, support services10

Supportive management strategies1

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

Functional monitoring in LGMD2I/R9

Regular monitoring helps build a clearer picture of disease progression in LGMD2I/R9. Because progression varies by genotype, assessments should be interpreted over time and within the broader clinical context, including motor function and mobility, respiratory function and ventilation, and cardiac status. Loss of ambulation (LOA), defined as the permanent loss of independent walking ability, is an important but variable milestone—it may or may not occur, and timing can differ widely depending on genotype.1-3,11

  • NSAD (North Star Assessment for Limb-Girdle Type Muscular Dystrophies): Evaluates motor abilities such as standing, walking, and transfers; small changes may reflect meaningful differences in daily function9,12,13
  • 100MTT (100-Meter Timed Test): Assesses ambulatory function over a sustained distance, capturing walking endurance and sensitivity to disease progression or fatigue-related decline2,9,12
  • 10MWT (10-Meter Walk Test): Measures ability to walk quickly over a shorter distance and stability; changes over time may help inform risk of LOA, particularly when considered alongside genotype2,9

  • FVC (Forced Vital Capacity): Measures lung volume and respiratory muscle strength; decline averages ~2% per year12,14,15
  • Pulmonary Function Testing: Supports early identification of respiratory involvement and guides timing of intervention12
  • Sleep and Ventilation: Sleep studies and noninvasive ventilation may be considered as respiratory weakness progresses1

  • 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

6MWD=6-minute walking distance; ECG=electrocardiogram; MRI=magnetic resonance imaging; NSAD=North Star Assessment for Limb-Girdle Type Muscular Dystrophies.

Impact of LGMD2I/R9

Explore how LGMD2I/R9 can present and progress through two patient experiences—highlighting the importance of timely genetic testing to help inform care.4

“For 25 years, I lived without a diagnosis…I was having more and more difficulty climbing steps and walking distances.”

After decades of unexplained symptoms and progression, Cyndy finally uncovered the cause of her condition through her own persistence. Her journey reflects both the uncertainty of living without answers and the determination to take control of her diagnosis and future.

A busy wife, mother, attorney, and dog lover, Cyndy has been living with LGMD2I/R9 for more than 25 years. In her mid‑twenties, she began experiencing difficulties walking up stairs. Still, despite many tests, muscle biopsies, and interactions with doctors, it was more than 2 decades before she had a definitive diagnosis. “For 25 years, I lived without a diagnosis. I was having more and more difficulty climbing steps, more difficulty walking distances. [I] started to use a cane and then used a mobility scooter for distances. Most of the time, I was physically fatigued, but I was determined to live a full life and focused on my work.”

Of her own volition, she purchased a genetic test kit, and the results indicated she was a carrier for LGMD2I/R9. This testing led her to a more thorough and extensive genetic test and, ultimately, a definitive diagnosis. “There was definitely a sense of relief in thinking, ‘Okay, now that I have it, I know what I can do to manage it.’ But the downside is that some of the things that can result from this disease are terrifying and can be deadly. And just sort of seeing how my disease has progressed over the years, it made me very scared of what was to come. Thinking about, ‘Am I going to be able to manage my family? How are they going to handle it?’ It opened up a lot of questions.”

She encourages everyone living with LGMD2I/R9 to seek support from others who are on their own personal journeys and to become advocates for themselves and others living with the condition. “Learn as much as you can, do research on your own, and assemble your own team of health care professionals who are knowledgeable and experienced in limb‑girdle disease.”

*These are individual experiences and do not reflect every exeperience.

“I just knew that I hurt when I moved.”

Diagnosed with LGMD2I/R9 as a child, Seamus faced early physical limitations that set him apart from his peers and shaped his school experience. His story highlights the challenges of growing up with a rare condition—and the resilience it takes to adapt and move forward.

When Seamus was about 8 years old, he and his family noticed he was having trouble walking. He also experienced extreme fatigue and pain, which prevented him from bike riding, swimming, hiking, and running as energetically as his siblings and from focusing during school. He didn’t know what was causing the problems. “I just knew that I hurt when I moved.”

Getting a diagnosis was not straightforward, but after ruling out potential tropical illnesses and other diseases that could have caused his symptoms, he was ultimately diagnosed with LGMD2I/R9.

“I was confused at first and sad. I didn’t know anything about it.” Seamus’s mom, Annie, was very scared in the beginning. “I was terrified he would just wake up one day and not be able to move.”

At school in Johannesburg, sports were an especially important activity, and being unable to join in was hard on him. He also found that teachers and classmates were often not sympathetic. He described one particularly cruel classmate and some teachers who berated him, asking why he could walk in the early part of the day but had to use a mobility device later in the day. He liked drama and thought that participating in the school play would be something he could excel in and enjoy, but he was unexpectedly cut from the cast. Having so few opportunities for extracurricular activities was hard, and he was very discouraged.

When asked what advice Seamus might give to another child newly diagnosed with LGMD2I/R9, he said, “Know what your own power is—your capabilities and limitations. Expect other people to be confused and not always understanding. Also, find things you like even though they may not be everything you want to do.” Annie added, “Turn fear into problem‑solving and think about what changes you can make to adapt along the way. Try to not get too caught up in what you can’t do and keep everything in perspective.”

*These are individual experiences and do not reflect every exeperience.

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