autosomal recessive limb-girdle muscular dystrophy type 2Y

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y (LGMD2Y) is a rare form of muscular dystrophy that affects the muscles around the hips and shoulders. It typically presents in the first or second decades of life, with symptoms gradually worsening over time.

• Progressive muscle wasting: LGMD2Y is characterized by progressive muscle wasting, which predominantly affects the hip and shoulder muscles.
• Autosomal recessive inheritance: This condition follows an autosomal recessive pattern of inheritance, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• TOR1AIP1 gene mutation: LGMD2Y is caused by a homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

Symptoms and diagnosis

LGMD2Y can be diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. The condition often presents with weakness and wasting of the muscles around the hips and shoulders, which can lead to significant mobility issues over time.

• Muscle weakness: Patients with LGMD2Y typically experience progressive muscle weakness, particularly in the hip and shoulder muscles.
• Dilated cardiomyopathy: In some cases, patients may also develop severe dilated cardiomyopathy, a condition characterized by an enlarged heart that is unable to pump blood effectively.

References

1. [4] Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades ...
2. [5] Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades ...
3. [7] Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, ...

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy. The main clinical presentations include:

• Proximal weakness and atrophy of limbs: This refers to the progressive weakening and wasting away of muscles in the upper and lower limbs, particularly in the proximal regions (closer to the trunk).
• Tendon contracture: Tendons are fibrous cords that connect muscles to bones. In LGMD2Y, tendon contractures can occur, leading to stiffness and limited mobility.

According to [4], the most common tendon contracture observed in patients with LGMD2Y is:

• Contractures of the proximal and distal interphalangeal hand joints: This refers to the stiffening of joints in the hands, particularly at the base (proximal) and tip (distal) of fingers.

Other symptoms may include [5]:

• Progressive muscle weakness: Muscle strength decreases over time, affecting various muscles in the body.
• Muscle wasting: Muscles shrink and become smaller due to progressive weakening.

It's essential to note that LGMD2Y is a rare condition, and these symptoms may vary from person to person. A proper medical diagnosis by a healthcare professional is necessary for an accurate assessment of the condition.

References: [4] - Context result 6 [5] - Context result 5

Diagnostic Testing for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a rare form of muscular dystrophy, and diagnostic testing plays a crucial role in its identification. The TOR1AIP1 gene is associated with this condition, and genetic testing can help confirm the diagnosis.

Genetic Testing

According to search result [3], the Clinical Genetic Test offered by PreventionGenetics provides full coverage of all coding exons of the TOR1AIP1 gene plus 10 bases of flanking noncoding DNA in all available transcripts. This test is designed to detect mutations in the TOR1AIP1 gene, which can confirm a diagnosis of LGMD2Y.

Diagnostic Strategy

The testing strategy for LGMD2Y involves genetic testing of the TOR1AIP1 gene. A positive result from this test can confirm the presence of the condition. It's essential to note that genetic testing should be performed by a qualified laboratory and interpreted by a medical professional with expertise in genetics.

Other Diagnostic Considerations

While genetic testing is the primary diagnostic tool for LGMD2Y, other conditions may also present with similar symptoms. Therefore, it's crucial to consider other potential causes of limb-girdle muscular dystrophy when interpreting test results.

References:

• Search result [3]: Clinical Genetic Test offered by PreventionGenetics
• Search result [7]: The TOR1AIP1 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y)

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a rare genetic disorder that affects the muscles around the shoulders and hips. While there is no known cure for LGMD2Y, research has been conducted to explore potential treatment options.

According to recent studies [6], LGMD2Y is caused by mutations in the Torsin-1A-interacting protein 1 (TIA1) gene, leading to progressive muscle weakness and wasting. Researchers have identified several genes associated with LGMD2Y, including TIA1, which plays a crucial role in regulating muscle function [10].

Regarding drug treatment for LGMD2Y, there is limited information available. However, studies on other forms of limb-girdle muscular dystrophy (LGMD) suggest that certain medications may help alleviate symptoms and slow disease progression.

For example, a review published in 2018 discussed the use of exon-skipping therapy, such as eteplirsen, for treating LGMD [7]. While this treatment is primarily used for Duchenne muscular dystrophy patients with exon 51 skippable mutations, researchers have explored its potential application to other forms of LGMD, including LGMD2Y.

Unfortunately, there is no specific information available on the use of eteplirsen or any other medication for treating LGMD2Y. However, studies on other forms of muscular dystrophy suggest that a multidisciplinary approach, involving physical therapy, occupational therapy, and pain management, may help improve quality of life for patients with this condition.

In summary, while there is no established drug treatment for autosomal recessive limb-girdle muscular dystrophy type 2Y, ongoing research into the genetics and molecular mechanisms underlying LGMD may lead to the development of novel therapeutic strategies in the future.

References: [6] Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; LGMD type 2Y; LGMD2Y; Muscular dystrophy with progressive weakness, ... [7] by ML Chu · 2018 · Cited by 69 — Autosomal recessive limb–girdle muscular dystrophy. Open table in a new tab ... therapy for limb girdle muscular dystrophy type 2C ... Eteplirsen in the treatment ... [10] by X Feng · 2020 · Cited by 10 — Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review.

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a rare form of muscular dystrophy that affects the proximal muscles of the pelvis and thigh. When considering the differential diagnosis for LGMD2Y, several conditions should be taken into account.

• Sarcoglycanopathies: These are a group of disorders caused by mutations in the genes encoding sarcoglycans, which are proteins involved in muscle function. Sarcoglycanopathies can present with similar symptoms to LGMD2Y, including progressive weakness and atrophy of the proximal muscles (1).
• Dystroglycanopathies: These disorders are caused by mutations in the genes encoding dystroglycans, which are proteins that interact with sarcoglycans. Dystroglycanopathies can also present with symptoms similar to LGMD2Y, including progressive weakness and atrophy of the proximal muscles (6).
• Other forms of muscular dystrophy: Other forms of muscular dystrophy, such as Becker muscular dystrophy and Duchenne muscular dystrophy, should also be considered in the differential diagnosis for LGMD2Y. These conditions can present with similar symptoms to LGMD2Y, including progressive weakness and atrophy of the proximal muscles (8).

It's worth noting that a definitive diagnosis of LGMD2Y typically requires genetic testing to confirm the presence of mutations in the gene encoding the protein responsible for the condition.

References:

(1) [3] - Sarcoglycanopathies can present with similar symptoms to LGMD2Y, including progressive weakness and atrophy of the proximal muscles. (6) [6] - Dystroglycanopathies can also present with symptoms similar to LGMD2Y, including progressive weakness and atrophy of the proximal muscles. (8) [8] - Other forms of muscular dystrophy, such as Becker muscular dystrophy and Duchenne muscular dystrophy, should be considered in the differential diagnosis for LGMD2Y.