obsolete autosomal dominant limb-girdle muscular dystrophy type 1C

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1C

Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic muscle diseases, and one of the known forms is autosomal dominant limb-girdle muscular dystrophy type 1C. This condition is characterized by progressive weakness of proximal limb-girdle muscles [6].

Autosomal dominant limb-girdle muscular dystrophy type 1C is caused by a mutation in the caveolin-3 gene (CAV3) on chromosome 3p25 [4]. This genetic mutation leads to a deficiency in muscle function, resulting in progressive weakness and muscle degeneration.

The symptoms of autosomal dominant limb-girdle muscular dystrophy type 1C typically manifest in adulthood, with patients experiencing symmetric and progressive weakness of proximal limb-girdle muscles. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease [3].

It's worth noting that this condition has been considered obsolete by some medical sources, but it remains an important part of the LGMD classification system [9].

Muscle Weakness and Wasting in Limb-Girdle Muscular Dystrophy Type 1C

Limb-girdle muscular dystrophy type 1C (LGMD 1C) is a rare autosomal dominant disorder characterized by childhood-onset proximal muscle weakness, myalgia, and muscle cramps. The symptoms of LGMD 1C can vary in severity and may include:

• Proximal muscle weakness: Weakness in the muscles closest to the trunk of the body, such as those in the shoulders, hips, and thighs.
• Muscle rippling to percussion: A condition where the muscles exhibit rapid contraction when tapped with a finger or other object.
• Myalgia: Muscle pain or cramps that can be severe and debilitating.

Other Symptoms

In addition to muscle weakness and wasting, LGMD 1C may also cause:

• Frequent falls: Due to weakness in the legs and arms.
• Difficulty walking and running: As a result of pelvic girdle involvement.
• Visible physical changes: Muscle wasting can alter posture or the appearance of the shoulder, back, and arm.

Age of Onset

The onset of muscle weakness varies but usually occurs before age 30. Early diagnosis is crucial to prevent further muscle damage and improve quality of life.

References:

[3] LGMD type 1C. This type is a disorder of childhood-onset proximal muscle weakness, myalgia, and muscle cramps. Muscle rippling to percussion ...

[8] LGMD 1C - may have rippling muscle disease, characterised by signs of increased muscle irritability, such as percussion-induced rapid contraction, percussion- ...

Based on my analysis, I found that diagnostic tests for limb-girdle muscular dystrophy (LGMD) are mentioned in the search results.

To diagnose a specific LGMD subtype, including the obsolete autosomal dominant limb-girdle muscular dystrophy type 1C, biochemical protein testing performed on muscle biopsies can be used, followed by confirmation with genetic testing [2]. DNA analysis and muscle biopsy are also used for diagnosis [3].

However, without genetic testing, diagnostic testing can typically lead to a general diagnosis of LGMD, with limited ability to determine the subcategory [5]. This suggests that genetic testing is crucial in diagnosing specific types of LGMD.

In addition, a clinical approach based on the clinical phenotype can guide genetic diagnosis for patients with suspected muscular dystrophy, including LGMD type 1C [7].

It's worth noting that limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs [8]. The identification of genetic loci of LGMDs has also been studied in the pre-molecular era, which may provide some insights into the diagnosis of specific types of LGMD [9].

References: [2] - 2. Diagnosis of a specific LGMD subtype can be achieved by biochemical protein testing performed on muscle biopsies, followed by confirmation with genetic testing. [3] - 3. Diagnosis is by DNA analysis and muscle biopsy. [5] - 5. Without genetic testing, diagnostic testing can typically lead to a general diagnosis of LGMD, with limited ability to determine the subcategory. [7] - 7. Level B For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on the clinical phenotype, ...

Based on the search results, it appears that there are some potential treatments being investigated for various forms of limb-girdle muscular dystrophy (LGMD), but specific treatment options for LGMD type 1C seem to be limited.

• According to search result [7], proteasomal inhibitors such as MG-132 and lactacystin have been shown to prevent degradation of a protein associated with LGMD-1C, suggesting that these compounds may have therapeutic potential.
• However, it's worth noting that the management of LGMD type 1C is generally supportive in nature, with no disease-modifying treatments available (search result [2]).
• Treatment for LGMD remains palliative and supportive, including weight control, physical therapy, and stretching exercises to promote mobility (search result [6]).

It appears that there are some potential therapeutic approaches being investigated for various forms of LGMD, but specific treatment options for LGMD type 1C seem to be limited. Further research is needed to determine the most effective treatments for this condition.

References: [2], [6], [7]

The differential diagnosis for obsolete autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) involves considering other conditions that present with similar symptoms. According to the available information, the differential diagnosis of LGMD includes:

• Facioscapulohumeral muscular dystrophy
• Emery-Dreifuss muscular dystrophy
• Congenital muscular dystrophy

These conditions can be ruled out through a combination of clinical evaluation and genetic testing.

LGMD1C is characterized by a severe deficiency of caveolin-3 in muscle fibers, which is a key diagnostic feature. However, it's essential to consider other conditions that may present with similar symptoms, such as:

• Slowly progressive proximal symmetric weakness
• Predominantly lower limb involvement

A thorough evaluation and genetic testing can help differentiate LGMD1C from other muscular dystrophies.

References: * [7] The differential diagnosis of LGMD includes facioscapulohumeral muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy, ... * [8] The disorder fulfills LGMD diagnostic criteria,21 with the following clinical features: slowly progressive proximal symmetric weakness with predominantly lower ...