autosomal recessive limb-girdle muscular dystrophy type 2D

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by progressive weakness in shoulder and pelvic girdle muscles [6]. This condition typically affects individuals who inherit two copies of the mutated gene, one from each parent [1].

The symptoms of LGMD2D often begin in childhood and progress over time, leading to difficulty walking, scapular winging, calf hypertrophy, and contractures of the Achilles tendon [12]. As the disease progresses, it can lead to a tiptoe gait and other mobility issues.

LGMD2D is caused by mutations in the SGCA gene, which encodes for the alpha-sarcoglycan protein. This protein plays a crucial role in maintaining muscle function and integrity [9].

It's worth noting that LGMD2D is a rare condition, and there is currently no known cure or treatment available. However, researchers are working to better understand the underlying causes of this disease and to develop effective treatments.

References:

• [1] Most forms of limb-girdle muscular dystrophy can have different inheritance patterns.
• [6] Autosomal recessive limb-girdle muscular dystrophy type 2D is characterized by progressive weakness in shoulder and pelvic girdle muscles.
• [9] Autosomal recessive limb-girdle muscular dystrophy-3 (LGMDR3) affects mainly the proximal muscles and results in difficulty walking. Most individuals have onset in childhood; the disorder is progressive.
• [12] Disease Overview. Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe ...

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of LGMD characterized by weakness and wasting of the muscles in the arms and legs. The main signs include:

• Pelvic girdle weakness: This is one of the primary symptoms of LGMD2D, where there is a significant weakening of the muscles around the pelvis.
• Fatty replacement and atrophy of specific muscles: The vastus intermedius, semimembranosus, and biceps femoris muscles are often affected, leading to fatty replacement and atrophy (wasting) of these muscles [7].
• Muscle weakness and wasting in hip, thigh, and shoulder muscles: People with sarcoglycanopathies, which include LGMD2D, often experience initial symptoms of weakness and wasting in the hip, thigh, and shoulder muscles [8].

Other symptoms may also be present, including:

• Difficulty climbing stairs
• Flexion contracture (a condition where the joints become stiff and bent)
• Generalized muscle weakness
• Gowers sign (a specific posture adopted by individuals with muscular dystrophy)
• Lumbar hyperlordosis (an abnormal curvature of the lower back)
• Muscular atrophy (wasting away of muscles)
• Muscular cramps

These symptoms can vary in severity and may progress over time, affecting other muscles in the body [3]. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References: [1] - Not applicable [2] - Not applicable [3] Oct 1, 2019 — Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. [4] Oct 16, 2023 — Limb-girdle muscular dystrophy type 2D is an inherited genetic disorder that causes weakness and wasting of the muscles in the arms and legs. [5] by C Bouchard · 2023 · Cited by 10 — The main signs include pelvic girdle weakness, fatty replacement, and atrophy of the vastus intermedius, semimembranosus and biceps femoris ... [6] Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by. [7] by C Bouchard · 2023 · Cited by 10 — The main signs include pelvic girdle weakness, fatty replacement, and atrophy of the vastus intermedius, semimembranosus and biceps femoris ... [8] People with sarcoglycanopathies often have initial symptoms of weakness and wasting (loss of muscle bulk) in the hip, thigh and shoulder muscles. This weakness ...

Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of LGMD characterized by progressive weakness in shoulder and pelvic girdle muscles. Diagnostic testing for LGMD2D typically involves a combination of clinical evaluation, genetic testing, and laboratory measures.

Clinical Evaluation

A thorough medical history and physical examination are essential to diagnose LGMD2D. The clinical presentation often includes:

• Progressive muscle weakness and wasting in the proximal muscles of the shoulder and pelvic girdle [5]
• Muscle cramps and stiffness
• Difficulty walking or climbing stairs

Genetic Testing

Direct gene or protein-based tests are available to confirm the diagnosis of LGMD2D. These tests can identify mutations in the SGCA gene, which is associated with this subtype of LGMD [13].

Laboratory Measures

Several laboratory measures can aid in the diagnosis of LGMD2D:

• Creatine kinase (CK) testing: Autosomal recessive limb-girdle muscular dystrophies often cause extremely high CK levels [6].
• Muscle biopsy: A muscle biopsy may be performed to examine muscle tissue for signs of damage and inflammation.
• Electromyography (EMG): EMG can help assess the electrical activity of muscles.

Other Diagnostic Approaches

In some cases, a diagnostic approach may involve considering other forms of muscular dystrophy, such as X-linked recessive inheritance patterns [12]. However, this is less likely to be relevant for LGMD2D, which is an autosomal recessive form of the disease.

It's essential to note that achieving a precise diagnosis of a particular type of LGMD often can be challenging due to substantial overlap in clinical picture and laboratory measures among different forms [11].

References:

[5] - Autosomal recessive limb-girdle muscular dystrophy type 2D is characterized by progressive weakness in shoulder and pelvic girdle muscles. [9] [6] - Creatine kinase testing aids diagnosis. Autosomal recessive limb-girdle muscular dystrophies (LGMDs) often cause extremely high CK levels. [7] [11] - Achieving a precise diagnosis of a particular type of LGMD often is challenging. In certain specific types of LGMD, there may be clinical clues, but there is substantial overlap in clinical picture and laboratory measures among the different forms. [13] - Direct gene or protein based tests are available to confirm the diagnosis in one autosomal dominant and six autosomal recessive forms.

Based on the search results, it appears that there is currently no effective treatment available for autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D). However, researchers are exploring various potential treatments, including gene replacement strategy and small molecule-based approaches.

According to search result [8], both gene replacement strategy and small molecule-based approaches show great promise and have been studied as potential treatments for LGMD2D. Additionally, search result [9] mentions that strategies such as gene therapy, exon skipping, stop codon read through, and myostatin blocking are being investigated as potential treatments.

It's worth noting that while these potential treatments hold promise, they are still in the experimental stages and more research is needed to determine their efficacy and safety. As search result [5] states, "No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential."

Therefore, it appears that there is currently no established drug treatment for autosomal recessive limb-girdle muscular dystrophy type 2D, but researchers are actively exploring various potential treatments.

References:

• [5] Aug 15, 2019 — No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential.
• [8] by M Scano · 2024 · Cited by 1 — There is currently no effective treatment available; however, both gene replacement strategy and small molecule-based approaches show great promise and have ...
• [9] These strategies include gene therapy, exon skipping, stop codon read through, and myostatin blocking. To learn more, read The Changing Landscape of LGMD ...

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2D is a form of LGMD that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop symptoms.

To determine if someone has LGMD type 2D, it's essential to consider other conditions with similar symptoms. Here are some differential diagnoses for autosomal recessive LGMD type 2D:

• Sarcoglycanopathies: These are a group of disorders caused by mutations in the genes that encode sarcoglycans, proteins involved in muscle function. Sarcoglycanopathies can be distinguished from LGMD type 2D through genetic and protein analysis [4].
• Congenital Muscular Dystrophy (CMD): CMD is a group of disorders characterized by muscle weakness and degeneration present at birth. While LGMD type 2D typically presents later in life, it's essential to consider CMD as part of the differential diagnosis.
• Facioscapulohumeral muscular dystrophy: This is another form of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms. It can be distinguished from LGMD type 2D through genetic analysis [10].
• Emery-Dreifuss muscular dystrophy: This is a rare disorder characterized by muscle weakness and degeneration, particularly affecting the muscles of the upper arms and lower legs.
• Congenital Myopathies: These are a group of disorders characterized by muscle weakness and degeneration present at birth. While LGMD type 2D typically presents later in life, it's essential to consider congenital myopathies as part of the differential diagnosis.

It's worth noting that the precise differential diagnosis of LGMD is crucial for genetic counseling, prognostic orientation, cardiac and respiratory management, and other aspects of patient care [8].

References:

[4] - Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? [8] - by A Cotta · 2014 · Cited by 46 — The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory ... [10] - The differential diagnosis of LGMD includes facioscapulohumeral muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, ...