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What Is Limb-Girdle Muscular Dystrophy?
Limb-Girdle Muscular Dystrophy (LGMD) is a group of genetic neuromuscular disorders that cause progressive weakness of muscles around the hips and shoulders. These muscles are known as the limb-girdle muscles and play a crucial role in basic movements such as walking, climbing stairs, standing up from a seated position, lifting objects, and maintaining balance.
Unlike some other muscular dystrophies, limb girdle muscular dystrophy often develops gradually. Early symptoms may appear subtle and are frequently mistaken for general weakness, fatigue, or nutritional deficiencies. This slow progression is one of the main reasons many individuals remain undiagnosed for years.
This article combines medical understanding with my personal experience of living with limb girdle muscular dystrophy, with the hope of helping patients, caregivers, and families recognize symptoms earlier and understand the diagnostic journey better.
Early Limb Girdle Muscular Dystrophy Symptoms, I Didn’t Recognize
Difficulty Cycling During School Years
My first signs of limb girdle muscular dystrophy appeared during my school years, between Class 7th and 10th (ages 15–17). I noticed that riding a bicycle required far more effort than it should have. Pedaling felt unusually heavy, even on flat roads.
At that stage, I assumed:
I lacked stamina
I wasn’t physically fit enough
It was just temporary weakness
I had no idea these could be early symptoms of limb girdle muscular dystrophy.
Trouble Climbing Stairs and Persistent Fatigue
By the time I reached Class 12th, climbing stairs became noticeably difficult. I would tire very quickly and often needed handrails to pull myself upward. Lifting my legs felt effortful, and fatigue set in much faster than it did for others my age.
Like many people, I dismissed this as:
Overexertion
General tiredness
Possible vitamin or iron deficiency
In hindsight, these were clear warning signs.
Worsening Symptoms During College Life
When I began my engineering studies, the progression became impossible to ignore.
I experienced:
Increasing difficulty climbing stairs
Reduced strength compared to my peers
Fatigue after minimal physical activity
Simple tasks that others performed effortlessly felt like daily challenges. This phase marked a turning point where I realized that something deeper was wrong.
Seeking Medical Help and Initial Misdiagnosis
Concerned, I consulted several doctors. The initial opinion was that I might be suffering from anemia or nutritional deficiency.
I was advised to:
Take multivitamin supplements
Improve my diet
Undergo regular leg massages
Despite following these recommendations diligently, my condition did not improve. This period was emotionally frustrating, as symptoms continued to progress without clear answers.
A Turning Point: Consulting a Neurologist
At the suggestion of relatives, I decided to consult a neurologist, which proved to be a critical decision.
The neurologist suspected a neuromuscular condition and ordered blood tests, including:
Creatine Phosphokinase (CPK)
Complete Blood Count (CBC)
The results were alarming. My CPK levels were above 3000, whereas normal levels are usually around 120. This indicated significant muscle damage and the need for further investigation.
How Is Limb-Girdle Muscular Dystrophy (LGMD Type 2A) Diagnosed?
The diagnosis of limb girdle muscular dystrophy often involves multiple steps and tests. In my case, the process included the following:
Electromyography (EMG)
I underwent an EMG test, which evaluates muscle and nerve function. This test helped doctors identify abnormal muscle responses consistent with a neuromuscular disorder.
Hospital Evaluation and Muscle Strength Testing
I was admitted to the hospital for three days, during which:
Detailed muscle strength assessments were conducted
Muscle charting was performed to map weakness patterns
Based on these findings, doctors confirmed a diagnosis of limb girdle muscular dystrophy.
Confirming the Diagnosis Through Muscle Biopsy
To further confirm the condition, I later underwent a muscle biopsy, where a small sample of muscle tissue was analyzed in a laboratory.
The biopsy results supported the diagnosis and provided clarity after months of uncertainty. While receiving this confirmation was emotionally overwhelming, it also brought answers and allowed us to focus on management rather than speculation.
Limb Girdle Muscular Dystrophy Type 2A (LGMD 2A)
After detailed evaluation, my condition was identified as limb girdle muscular dystrophy type 2A, also known as LGMD 2A or calpainopathy.
LGMD 2A is a genetic subtype of limb girdle muscular dystrophy that primarily affects:
Hip muscles
Shoulder muscles
Like other forms of LGMD, LGMD 2A is progressive and currently has no cure. Management focuses on physiotherapy, symptom monitoring, and maintaining quality of life.
It is important to note that classification of LGMD subtypes is based on clinical findings and diagnostic methods, and exact categorization should always be made by medical professionals.
When Limb-Girdle Muscular Dystrophy Runs in the Family
Because limb girdle muscular dystrophy is genetic, my doctors recommended that my siblings also undergo testing.
My elder brother showed no signs of the condition
My younger sister, although asymptomatic at the time, had elevated CPK levels
Further examination revealed early indicators such as:
Scapular winging
Enlarged calf muscles
She was diagnosed in the early stage of limb girdle muscular dystrophy.
For our family, this was a difficult realization. Accepting that there was no cure, only long-term management, required emotional strength and adjustment.
Living With Limb-Girdle Muscular Dystrophy
Living with limb girdle muscular dystrophy is a continuous process of adaptation. While muscle weakness progresses gradually, supportive care can help preserve independence for as long as possible.
From my experience, some key aspects of daily management include:
Regular physiotherapy
Avoiding overexertion
Listening to the body’s limits
Accepting assistance when needed
Equally important is mental resilience. Learning to focus on abilities rather than limitations makes a significant difference in quality of life.
Emotional Strength and Acceptance
Being diagnosed with limb girdle muscular dystrophy changed my perspective on life. It taught me patience, self-awareness, and resilience.
While physical strength may decline, emotional strength often grows. The journey involves:
Redefining independence
Adjusting expectations
Finding purpose beyond physical capability
This condition does not define who I am—it is simply a part of my journey.
Frequently Asked Questions
What are the common symptoms of limb girdle muscular dystrophy?
Common symptoms include difficulty climbing stairs, rising from a seated position, muscle weakness in hips and shoulders, fatigue, and balance issues.
How is limb girdle muscular dystrophy diagnosed?
Diagnosis typically involves blood tests (CPK), EMG, clinical evaluation, genetic testing, and sometimes muscle biopsy.
Is limb girdle muscular dystrophy hereditary?
Yes, limb girdle muscular dystrophy is a genetic condition and may affect multiple family members.
Is there a cure for LGMD 2A?
Currently, there is no cure for LGMD 2A. Treatment focuses on symptom management, physiotherapy, and maintaining quality of life.
About the Author
Anshuli Singhal is a software engineer living with limb girdle muscular dystrophy type 2A (LGMD 2A). Diagnosed in early adulthood, she shares her lived experience to raise awareness and help patients and caregivers better understand muscular dystrophy and daily life adaptations.
This article is based on personal experience and is intended for informational purposes only. It does not replace professional medical advice.