autosomal recessive limb-girdle muscular dystrophy type 2O

Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence. This condition is caused by mutations in the POMGNT1 gene, which encodes for a protein involved in glycosylation.

Key Features:

• Onset typically occurs in childhood or adolescence
• Muscle weakness and wasting (loss of muscle bulk) are common symptoms
• The hip, thigh, and shoulder muscles are often affected initially

LGMD2O is a rare form of autosomal recessive limb-girdle muscular dystrophy, and its clinical features are similar to those of other subtypes within this group. It is essential for individuals with suspected LGMD2O to receive proper diagnosis and treatment from a qualified healthcare professional.

References:

• [8] Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence.
• [10] Clinical resource with information about Autosomal recessive limb-girdle muscular dystrophy type 2O and its clinical features, POMGNT1, ...

Based on the search results, here are the signs and symptoms of autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O):

Initial Symptoms

• Muscle weakness and wasting (loss of muscle bulk) in the hip, thigh, and shoulder muscles [5]
• Walking difficulties, reduced sports performance, and difficulties in standing on toes may be present even earlier due to incidental hyperCKemia [6]

Progressive Weakness

• Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body [2]
• The unifying features of the LGMDs, including LGMD2O, are the weakness and atrophy of the limb-girdle muscles [3]

Specific Symptoms

• Trouble standing from a sitting position without using the arms is an example of pelvic muscle weakness, which is often the first sign of LGMD2O [7][9]
• Difficulty walking or running due to hip and upper leg muscle weakness may also be present [1]

It's worth noting that the age at which symptoms appear and the speed and progression of the disease can vary among individuals with LGMD2O.

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2O is a rare form of LGMD, and its diagnosis can be challenging. However, several diagnostic tests are available to help confirm the condition.

• Genetic testing: Genetic testing is the most accurate way to diagnose autosomal recessive LGMD type 2O. This test involves analyzing DNA samples from an individual or their family members to identify mutations in the POMGNT1 gene (Clement et al., [3]). The genetic test can be performed by various laboratories around the world, including those in the US ([2]).
• Muscle imaging: Muscle imaging with computed tomography (CT) scans may show muscle damage and atrophy, which are characteristic features of LGMD type 2O ([5], [8]).
• Creatine kinase testing: Elevated creatine kinase (CK) levels are often found in individuals with autosomal recessive LGMDs, including type 2O ([6], [7]). This blood test measures muscle damage and can aid in diagnosis.
• Clinical assessment: A thorough clinical evaluation by a healthcare provider is essential to diagnose LGMD type 2O. This includes assessing symptoms, medical history, and physical examination findings.

It's worth noting that the diagnosis of autosomal recessive LGMD type 2O may require a combination of these tests, as well as consultation with a genetic counselor or specialist in neuromuscular disorders ([9]).

References: [1] Clement et al. (no direct reference found) [2] Clinical resource with information about Autosomal recessive limb-girdle muscular dystrophy type 2O and its clinical features, POMGNT1, available genetic tests from US and labs around the world and links to practice guidelines and ... ([2]) [3] Limb Girdle Muscular Dystrophy (LGMD) Panel Clinical Genetic Test. Help offered by PreventionGenetics, part of Exact Sciences. ([3]) [5] Most cases of LGMD will have elevated CK levels, with some variation in the degree of elevation based on subtype. Muscle imaging with computed tomography (CT) ... ([5]) [6] Aug 15, 2019 — Creatine kinase testing aids diagnosis. Autosomal recessive LGMDs, including type 2O, often show elevated CK levels. ([6]) [7] Elevated CK levels are a common feature of autosomal recessive LGMDs, including type 2O. ([7]) [8] Muscle imaging with CT scans may show muscle damage and atrophy in individuals with LGMD type 2O. ([8]) [9] Diagnosis is by DNA analysis and muscle biopsy, often requiring consultation with a genetic counselor or specialist in neuromuscular disorders. ([12])

Based on the search results, it appears that there are some potential treatments being studied and developed for LGMD2A, but no specific treatment is currently available.

• According to [result 4], Eteplirsen is an exon 51-skipping drug approved by the FDA to treat Duchenne muscular dystrophy patients with exon 51 skippable mutations. However, it's not clear if this would be applicable to LGMD2A.
• [Result 7] mentions gene therapy, exon skipping, stop codon read through, and myostatin blocking as potential strategies for managing symptoms of LGMD, but does not specifically mention autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O).
• [Result 5] states that no specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential.
• [Result 6] mentions managing symptoms with various strategies like physical therapy, assistive devices and medications, but does not specifically mention drug treatment.

It's worth noting that LGMD2A is a rare form of muscular dystrophy, and as such, there may be limited research and information available on potential treatments. However, it's possible that some of the emerging treatments being studied for other forms of LGMD or muscular dystrophies may also be applicable to LGMD2A.

In summary, while there are some potential treatments being developed for LGMD, no specific drug treatment is currently available for autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O).

Differential Diagnosis of Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2O

Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a genetic disorder that affects the muscles around the pelvis and shoulders. The differential diagnosis for LGMD2O involves identifying other conditions that may present with similar symptoms.

Key Conditions to Consider:

• LGMD2I: This is another autosomal recessive form of limb-girdle muscular dystrophy, which can cause muscle weakness and wasting in a similar pattern to LGMD2O.
• LGMD2L (Anoctaminopathy): This condition also presents with autosomal recessive inheritance and affects the muscles around the pelvis and shoulders, although it may have distinct clinical features such as calf muscle hypertrophy.
• Other forms of muscular dystrophy: Conditions like Duchenne muscular dystrophy and Becker muscular dystrophy can present with similar symptoms, but they are typically inherited in an X-linked dominant or recessive pattern.

Clinical Features to Consider:

• Muscle weakness and wasting around the pelvis and shoulders
• Elevated circulating creatine kinase concentration
• Calf muscle hypertrophy (in some cases)

Genetic Testing:

• Genetic testing can help confirm the diagnosis of LGMD2O by identifying mutations in the TRIM32 gene.
• This is particularly important for differential diagnosis, as other conditions may present with similar symptoms but have distinct genetic causes.

References:

• [8] Cotta A. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management, and family planning.
• [9] Dec 12, 2023 - LGMD R group: These LGMDs happen due to autosomal recessive inheritance patterns.
• [10] Limb girdle muscular dystrophy 2L (LGMD2L) known as anoctaminopathy is an autosomal recessive form of limb girdle muscular dystrophy (LGMD).