Help Us Cure LGMD 2T

LGMD 2T, also known as LGMD R19, is a subtype of limb-girdle muscular dystrophy caused by mutations in the GMPPB gene. This gene encodes the enzyme GDP-mannose pyrophosphorylase B, which is crucial for the glycosylation of α-dystroglycan—a process essential for maintaining muscle integrity. Mutations in GMPPB lead to hypoglycosylation of α-dystroglycan, disrupting its function and resulting in muscle weakness and atrophy. Unlike other forms of LGMD, LGMD 2T specifically involves defects in glycosylation pathways, leading to progressive muscle wasting, primarily affecting the shoulder and hip areas. Symptoms and progression rates can vary significantly among individuals. Source: NIH

LGMD 2T, also known as LGMD R19, is a subtype of limb-girdle muscular dystrophy caused by mutations in the GMPPB gene. This gene is essential for glycosylation, a process critical for muscle integrity. Symptoms of LGMD 2T include progressive muscle weakness and wasting, primarily affecting the shoulders, hips, legs, and arms. This weakness can lead to difficulties with activities such as lifting objects, climbing stairs, and standing from a seated position. Over time, other muscles, including those involved in respiratory and cardiac functions, may also be affected. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. Source: ORPHA

Limb-Girdle Muscular Dystrophy type 2T (LGMD2T) is diagnosed through a combination of clinical evaluations and specialized tests. Initially, a thorough medical history and physical examination are conducted to assess muscle weakness patterns, particularly in the shoulder and hip areas. Blood tests measuring serum creatine kinase (CK) levels can indicate muscle damage, as elevated CK levels are common in muscular dystrophies. A muscle biopsy may be performed to analyze tissue for dystrophic changes and assess protein expression, aiding in identifying specific LGMD subtypes. The definitive diagnosis is confirmed through genetic testing, which identifies mutations in the GMPPB gene associated with LGMD2T. Early and accurate diagnosis is crucial for effective management and appropriate genetic counseling. Source: MDA

Currently, there is no cure for Limb-Girdle Muscular Dystrophy type 2T (LGMD2T). Treatment focuses on managing symptoms and improving quality of life through a multidisciplinary approach. Physical therapy is essential to maintain muscle strength and prevent contractures, while assistive devices can aid mobility as muscle weakness progresses. Regular monitoring of respiratory function is crucial, as respiratory muscle weakness can develop over time, necessitating interventions like non-invasive ventilation. Although cardiac involvement is uncommon in LGMD2T, periodic cardiac assessments may be recommended to ensure heart health. Emerging research areas, such as gene therapy and strategies targeting glycosylation pathways, hold promise for future treatments, but these approaches are still under investigation. Source: NIH

The impact of Limb-Girdle Muscular Dystrophy type 2T (LGMD2T) on life expectancy varies based on the severity of muscle weakness and the presence of complications, particularly those affecting respiratory and cardiac functions. Regular medical care, including monitoring of heart and lung health, can help manage these complications and improve overall outcomes. While some individuals with LGMD may experience a reduction in life expectancy due to severe symptoms, many live into adulthood, especially with appropriate management of associated health issues. Source: MDA

Limb-Girdle Muscular Dystrophy type 2T (LGMD2T), also known as LGMD R19, was identified as a distinct subtype in 2013 when mutations in the GMPPB gene were linked to the condition. This discovery highlighted the role of glycosylation pathways in certain muscular dystrophies. Source: MDPI

Limb-Girdle Muscular Dystrophy type 2T (LGMD2T) is underfunded compared to more prevalent diseases primarily due to its rarity. Affecting approximately 2 in every 100,000 individuals, LGMD2T's limited patient population results in lower visibility among public health initiatives and funding agencies. This scarcity often leads to reduced awareness, fewer advocacy groups, and diminished commercial incentives for pharmaceutical companies to invest in research and development of treatments. Consequently, rare diseases like LGMD2T face significant challenges in securing adequate resources for research and therapeutic advancements. Source: Cleveland Clinic

Limb-Girdle Muscular Dystrophy Type 2T (LGMD 2T), caused by mutations in the GMPPB gene, can present symptoms at any age, from birth through adulthood. The progression of the disease is typically slow, and some individuals may experience mild intellectual disability. Due to the variability in symptom onset and progression, diagnosis may occur at different life stages. Early detection through genetic testing and clinical evaluations is crucial for managing the condition effectively. Sources: Cleveland Clinic, NIH

You can support LGMD 2T efforts by donating to organizations funding research, joining patient registries, participating in awareness campaigns, and attending events like LGMD Awareness Day or family conferences​.

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