What is HMERF?
Hereditary myopathy with early respiratory failure (HMERF) is a rare, inherited neuromuscular disease that causes muscle weakness and, in some cases, respiratory failure, often starting in adulthood.
A Progressively Debilitating Disease
HMERF Is A Progressively Debilitating Disease Caused By Progressive Weakness And Muscle Wasting Across The Legs, Hips And Respiratory Tract.
It is an ultra-rare form of Muscular Dystrophy affecting fewer than 1,000 individuals in the US but many thousands around the world.
This type of muscular dystrophy causes a progressive loss of muscle mass, eventually leaving patients to become bedridden and in severe pain. Ultimately, the disease will also determine how long each patient can continue to breathe on their own. For each patient, and for unknown reasons, the path through this disease can be very different for each person.
What is Hereditary Myopathy with Early Respiratory Failure (HMERF)
Hereditary Myopathy with Early Respiratory Failure (HMERF) is a rare genetic muscle disorder that primarily affects skeletal muscles and leads to respiratory complications early in the disease’s progression. Understanding this condition is crucial, as early diagnosis and intervention can help manage symptoms effectively.
HMERF is classified as an inherited myopathy, which means it is a genetic disorder affecting muscle function. Unlike some other muscle diseases, HMERF is distinguished by the fact that respiratory failure often occurs before significant limb muscle weakness.
Symptoms and Early Signs
The symptoms of HMERF typically appear in adulthood, usually between the ages of 30 and 50. The most common signs include:
- Gradual muscle weakness, particularly in the thighs and shoulders
- Difficulty walking or climbing stairs
- Early onset of breathing problems, even before significant limb weakness
- Fatigue and decreased lung function over time
Diagnosis of HMERF
Diagnosing HMERF requires multiple tests, including:
- Genetic Testing – Identifies TTN mutations
- Muscle Biopsy – Examines muscle tissue for abnormalities
- MRI and EMG Scans – Assess muscle structure and progression
How HMERF Affects Daily Life
HMERF will significantly impact mobility and respiratory function,continually making daily tasks more and more challenging. Many patients eventually require assistive devices such as wheelchairs and ventilatory support to aid breathing.
HMERF Treatment Options
While there is no cure for HMERF right now, treatments focus on managing symptoms:
- Physical Therapy – Helps maintain muscle function
- Respiratory Support – Use of non-invasive ventilators or breathing aids
- Medication – May help relieve some symptoms
Living with HMERF
Coping with HMERF involves lifestyle adjustments and support from caregivers. Strategies include:
- Using adaptive equipment for mobility
- Regular pulmonary check-ups to monitor breathing
- Joining patient support groups
Current Research and Future Treatments
Research is ongoing, with scientists exploring:
- Gene Therapy – Potentially correcting TTN mutations
- Stem Cell Treatments – Aiming to regenerate affected muscles
- Drug Trials – Testing new treatments for symptom relief
Casey's Story
Casey’s story is much like other people with HMERF. A disease that will take her life because the muscles in her body are dying.
A nurse in the pulmonary clinic at the WellStar West Georgia Medical Center in Georgia, USA, Casey married her high school sweetheart, Josh, and together they have two sons, Joshua and Ethan.
In 2017, Casey was diagnosed with HMERF, and their lives changed forever.
