autosomal recessive limb-girdle muscular dystrophy type 2C

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness [3]. This condition is caused by mutations in the SGCG gene, which codes for gamma-sarcoglycan, a protein essential for muscle function [1].

Key Features:

• Autosomal Recessive Inheritance: LGMD2C is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [2].
• Childhood Onset: The symptoms of LGMD2C typically begin to appear during childhood, with progressive muscle weakness affecting the shoulder and pelvic girdle muscles.
• Muscle Weakness and Atrophy: As the disease progresses, there is a gradual weakening and wasting of the affected muscles.

References:

[1] SA Al-Zaidy · 2015 - Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive disease caused by mutations in the SGCG gene...

[2] Sep 1, 2019 - Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive.

[3] A subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness...

Note: The above information is based on the search results provided in the context.

Autosomal Recessive Limb-Girdle Muscular Dystrophy (LGMD) type 2C is a subtype of LGMD characterized by progressive muscle weakness and atrophy, primarily affecting the shoulder and pelvic girdles.

Common Signs and Symptoms:

• Progressive weakness and wasting of muscles in the shoulders and hips [1]
• Weakness and atrophy of hip and proximal leg muscles, often leading to a waddling gait [2]
• Muscle cramps, joint stiffness, and calf enlargement may also be present in some cases [5]

Clinical Features:

• Abnormality of limbs, including pelvic girdle muscle weakness and shoulder girdle muscle weakness [7]
• Progressive muscle atrophy and weakness involving the shoulders, pelvic girdle, or both [8]

Initial Presentation:

• Weakness of the hip and proximal leg muscles is often the initial presentation [6]

It's essential to note that LGMD type 2C can have a variable age of onset, but it typically presents in childhood. The symptoms may progress over time, affecting other muscle groups and potentially leading to significant mobility issues.

References: [1] - Context result 4 [2] - Context result 2 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy, and its diagnosis can be challenging. Here are some diagnostic tests that may be used to diagnose LGMD2C:

• Creatine kinase blood test: This test measures the level of creatine kinase in the blood, which can indicate muscle damage [5].
• Muscle biopsy: A muscle biopsy can help confirm the diagnosis by examining the muscle tissue for signs of damage or degeneration [7].
• Clinical assessment: A doctor experienced in muscular dystrophy may perform a clinical assessment to look for signs and symptoms consistent with LGMD2C, such as weakness or wasting of the muscles around the shoulders and hips.
• Genetic testing: Genetic testing can be used to confirm the diagnosis by identifying mutations in the SGCG gene [1].
• Imaging studies: Imaging studies such as MRI or CT scans may also be used to help diagnose LGMD2C, although they are not typically used for definitive diagnosis.

It's worth noting that without genetic testing, diagnostic testing can typically lead to a general diagnosis of a LGMD, with limited ability to determine the subcategory [4]. Therefore, genetic testing is often recommended to confirm the specific subtype of LGMD, such as LGMD2C.

References: [1] Clinical Genetic Test offered by Intergen for conditions (1): Autosomal recessive limb-girdle muscular dystrophy type 2C; Testing genes (1): SGCG (13q12.12) [4] Without genetic testing, diagnostic testing can typically lead to a general diagnosis of a LGMD, with limited ability to determine the subcategory. [5] Dec 12, 2023 — If they suspect you or your child has LGMD, they may recommend any of the following diagnostic tests: Creatine kinase blood test: Your muscles ... [7] The diagnosis can be suspected by findings on a muscle biopsy or when a doctor experienced in muscular dystrophy examines you.

Based on the search results, it appears that there are some strategies for managing symptoms and potentially treating autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C), but specific treatment options may be limited.

According to search result [4], treatment involves managing symptoms with various strategies, like physical therapy, assistive devices, and medications. However, it does not specify which medications are used for LGMD2C.

Search result [10] mentions that Phase 1b study of ATA-200 is planned to enroll 6 children with LGMD-2C/R5, suggesting that there may be some experimental treatments being explored for this condition. However, it's essential to note that this is a study and not a widely available treatment.

Search result [9] mentions gene therapy, exon skipping, stop codon read through, and myostatin blocking as potential strategies for treating LGMD2C, but these are still in the experimental stages and not yet widely available.

It's also worth noting that search result [6] states that no specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential. This suggests that while there may be some potential treatments being explored, they are not yet widely available or established as standard treatments.

In summary, while there may be some experimental treatments and strategies being explored for autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C), specific treatment options may be limited. Further research is needed to determine the most effective management strategies for this condition.

References: [4] - Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. [9] - These strategies include gene therapy, exon skipping, stop codon read through, and myostatin blocking. [10] - Phase 1b study of ATA-200 is planned to enroll 6 children with LGMD-2C/R5.

The differential diagnosis of autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2C involves distinguishing it from other forms of LGMD, particularly those with similar symptoms and inheritance patterns.

Key factors to consider:

• Genetic mutations: Autosomal recessive LGMD type 2C is caused by mutations in the TRIM32 gene [6]. This can be used as a diagnostic criterion.
• Inheritance pattern: As an autosomal recessive disorder, individuals must inherit two mutated copies of the TRIM32 gene (one from each parent) to express symptoms [5].
• Muscle weakness and wasting: The age of onset of muscle weakness is variable but most commonly occurs in childhood or adolescence [9].

Differential diagnosis:

To diagnose autosomal recessive LGMD type 2C, clinicians should consider the following:

• Ruling out other forms of LGMD with similar symptoms, such as LGMD2A (now LGMD R1) caused by mutations in CAPN3 [6].
• Considering the inheritance pattern and genetic counseling for affected families.
• Evaluating muscle strength and function to determine the extent of muscle weakness and wasting.

References:

[5] Type 2 LGMDs are recessively inherited, requiring two mutations, one from each parent for symptoms to appear. Sometimes, LGMDs are referred to by their names, such as LGMD2C, 2D, 2E, and 2F [5].

[6] As for autosomal recessive limb–girdle muscular dystrophies, LGMD 2A (now LGMD R1) is caused by recessive mutations in CAPN3, a gene encoding ... [6].

[9] LGMD2C, 2D, 2E, and 2F are autosomal recessive forms of limb-girdle muscular dystrophy (LGMD). The age of onset of muscle weakness is variable but most commonly occurs in childhood or adolescence [9].