autosomal recessive limb-girdle muscular dystrophy type 2S

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2S, also known as LGMD2S, is a rare form of muscular dystrophy that affects the muscles around the pelvis and lower back. This condition is characterized by progressive muscle weakness and atrophy, which can lead to significant mobility issues.

Causes and Inheritance

LGMD2S is caused by mutations in the CAV3 gene, which codes for a protein called caveolin-3. This protein plays a crucial role in maintaining the structure and function of skeletal muscle cells. The condition 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.

Symptoms and Progression

The symptoms of LGMD2S typically begin in early childhood, with affected individuals experiencing progressive weakness and wasting of the muscles around the pelvis and lower back. As the condition progresses, individuals may experience difficulty walking, running, or performing other physical activities that require muscle strength. In severe cases, LGMD2S can lead to complete loss of mobility.

Prevalence and Diagnosis

LGMD2S is a rare form of muscular dystrophy, with an estimated prevalence of 1-9 per 100,000 people. The condition is often diagnosed through genetic testing, which can identify the presence of mutations in the CAV3 gene. A physical examination and medical history may also be used to support the diagnosis.

Treatment and Management

There is currently no cure for LGMD2S, but various treatments and management strategies can help alleviate symptoms and slow disease progression. These may include physical therapy, occupational therapy, and assistive devices such as wheelchairs or walkers. In some cases, medications may be prescribed to manage muscle pain and weakness.

References

• [1] Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive.
• [8] Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. Calpainopathy, or limb ...
• [9] Dec 12, 2023 — The LGMD R group: These LGMDs happen due to autosomal recessive inheritance patterns. This means you've inherited a genetic mutation that causes ...

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a rare form of the disorder that affects the muscles around the shoulders and hips. The signs and symptoms of LGMD2S can vary in severity and age of onset, but generally include:

• Progressive muscle weakness: Affected individuals typically experience weakness and wasting (loss of muscle bulk) in the shoulder and pelvic girdle muscles [4].
• Muscle atrophy: As the disease progresses, muscles may shrink and become less functional [3].
• Abnormality of limbs: People with LGMD2S often have abnormal limb features, including pelvic girdle muscle weakness and shoulder girdle muscle weakness [7].

It's worth noting that the age of onset, severity, and progression of symptoms can vary significantly among individuals with LGMD2S. Some people may experience mild symptoms, while others may have more severe impairments.

In terms of specific symptoms, affected individuals may experience:

• Weakness in hip and upper leg muscles: This is often one of the first signs of LGMD2S [1].
• Waddling gait: As muscle weakness progresses, individuals may develop a characteristic waddling gait due to difficulty walking or standing [1].

It's essential to consult with a healthcare professional for an accurate diagnosis and guidance on managing symptoms.

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2S is a subtype of LGMD that is caused by mutations in the TRIM32 gene. Diagnostic tests for this condition typically involve genetic testing to confirm the presence of a mutation in the TRIM32 gene.

• Genetic Testing: This is the primary diagnostic test for autosomal recessive LGMD type 2S. Genetic testing involves analyzing DNA samples from blood or other tissues to identify mutations in the TRIM32 gene [1]. The test can be performed using various techniques, including PCR (polymerase chain reaction), sequencing, and microarray analysis.
• Clinical Evaluation: In addition to genetic testing, a clinical evaluation is also necessary to confirm the diagnosis of autosomal recessive LGMD type 2S. This involves assessing the patient's medical history, performing a physical examination, and evaluating muscle strength and function [6].
• Muscle Biopsy: A muscle biopsy may be performed to assess muscle damage and inflammation, which can help confirm the diagnosis of LGMD type 2S [7].

It is worth noting that genetic testing for autosomal recessive LGMD type 2S typically involves analyzing DNA samples from both parents and affected individuals to determine if they carry a mutation in the TRIM32 gene. This information can be used to provide a definitive diagnosis and inform family planning decisions.

References:

[1] Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1): Autosomal recessive limb-girdle muscular dystrophy; Testing genes (13)

[6] Quite often, complex tests may be needed to work out the causes of LGMD in an individual, which may include examination of a muscle biopsy and a blood sample ...

[7] by K Bushby · 2007 · Cited by 46 — Diagnosis therefore relies on a combination of clinical assessment, specialised muscle immunoanalysis and genetic testing. In informative families, linkage ...

Based on the search results, it appears that there are no specific treatments available for autosomal recessive limb-girdle muscular dystrophy type 2S (LGMDR2S). However, careful management of symptoms can improve a person's quality of life.

• According to search result [8], treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.
• Search result [3] mentions that multiple potential treatments were developed and studied in the last decade, such as stem-cell transplantation, exon skipping, gene therapy, but it does not specifically mention LGMDR2S.

It's worth noting that autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases [13], which might make it challenging to develop specific treatments for each subtype.

Unfortunately, there is no information available in the search results about drug treatment specifically for LGMDR2S. However, researchers are actively exploring new potential treatments for limb-girdle muscular dystrophies, including gene therapy and exon skipping [3].

If you're looking for more information on this topic, I recommend searching for recent studies or clinical trials related to LGMDR2S.

References: [3] by C Bouchard · 2023 · Cited by 10 [8] Dec 12, 2023 — Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. [13] Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles.

The differential diagnosis for autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2S involves a range of conditions that can present with similar symptoms. Here are some key points to consider:

• Sarcoglycanopathies: These are a group of LGMDs caused by mutations in the sarcoglycan genes, including alpha-sarcoglycan (SGCA), beta-sarcoglycan (SGCB), gamma-sarcoglycan (SGCG), and delta-sarcoglycan (SGCD). Sarcoglycanopathies are characterized by muscle weakness and wasting, particularly in the proximal muscles of the upper and lower limbs [6].
• Other autosomal recessive LGMDs: In addition to sarcoglycanopathies, there are several other forms of autosomal recessive LGMD that can present with similar symptoms. These include LGMD 2A (now known as LGMD R1), which is caused by mutations in the CAPN3 gene [4].
• Muscle immunoanalysis: Muscle immunoanalysis can be used to predict the genotype in sarcoglycanopathies, and may also be useful in differentiating between other forms of autosomal recessive LGMD [8].

It's worth noting that the differential diagnosis for autosomal recessive LGMD type 2S is complex and requires a comprehensive evaluation of clinical, genetic, and biochemical data. A detailed diagnostic workup should include:

• Clinical examination to assess muscle strength and function
• Genetic testing to identify mutations in relevant genes (e.g., SGCA, SGCB, SGCG, SGCD)
• Muscle biopsy with immunohistochemistry to evaluate sarcoglycan expression
• Other diagnostic tests as needed to rule out other conditions that may present with similar symptoms.

References:

[4] Bouchard C. et al. (2023) - [1] [6] Cotta A. et al. (2014) - [6] [8] Bushby K. et al. (2007) - [9]

Note: The numbers in square brackets refer to the corresponding search results provided in the context.