autosomal recessive limb-girdle muscular dystrophy type 2B

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B)

Limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset of muscle weakness in the pelvic and shoulder girdle muscles [3]. It is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic muscles and muscles of the shoulder girdle [8].

Key Features:

• Autosomal Recessive Inheritance: LGMD2B 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 [2].
• Muscle Weakness and Wasting: The disease causes progressive muscle weakness and wasting in the pelvic and shoulder girdle muscles.
• Age of Onset: The age of onset of muscle weakness can vary, but it typically begins in childhood or adolescence.

Clinical Features:

• Abnormality of limbs
  • Pelvic girdle muscle weakness
  • Shoulder girdle muscle weakness
• Abnormality of metabolism/homeostasis
  • Elevated creatine kinase levels (a marker of muscle damage)

LGMD2B is a rare and heterogeneous condition, and its symptoms can vary from person to person. However, the key features mentioned above are commonly associated with this subtype of autosomal recessive limb-girdle muscular dystrophy.

References: [1] Not applicable [2] Sep 1, 2019 — Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive. [3] Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset ... [4] Not applicable [5] Clinical features · Abnormality of limbs. Pelvic girdle muscle weakness; Shoulder girdle muscle weakness · Abnormality of metabolism/homeostasis. Elevated ... [6] Muscular dystrophy, limb-girdle, autosomal recessive 2 is a degenerative myopathy characterized by weakness and atrophy in the pelvifemoral muscles, with onset ... [7] Not applicable [8] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic muscles and muscles of the shoulder girdle.

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of LGMD that primarily affects the muscles around the shoulders and hips. The major clinical features of this condition include:

• Progressive weakness and muscle atrophy: This is the hallmark symptom of LGMD2B, starting in adolescence or young adulthood.
• Early involvement of pelvic and shoulder girdle muscles: Affected individuals typically experience weakness and atrophy of these muscle groups early on.
• Slow progression: The symptoms of LGMD2B tend to progress slowly over time.

Other symptoms may also be present, including:

• Muscle cramps
• Joint stiffness

It's worth noting that the initial presentations of LGMD2B are usually weakness of the hip and proximal leg muscles. However, affected individuals typically have normal early motor and intellectual development.

References:

• [6] - Characterized by early weakness and atrophy of the pelvic and shoulder girdle muscles in adolescence or young adulthood.
• [8] - General signs and symptoms include progressive weakness and muscle atrophy involving the shoulders, pelvic girdle, or both.
• [9] - Weakness of the big muscles of the legs and/or arms is a common feature.

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a rare genetic disorder that affects the muscles around the shoulders and hips. Diagnostic testing for LGMD2B can be challenging, but several tests can help confirm the diagnosis.

Diagnostic Tests:

• Creatine Kinase Testing: This blood test measures the level of creatine kinase in the blood, which is often extremely high in individuals with autosomal recessive limb-girdle muscular dystrophies (LGMDs) [3].
• Muscle Biopsy: A muscle biopsy can be performed to examine the muscle tissue and look for specific protein abnormalities. Biochemical protein testing on a muscle biopsy followed by genetic testing can help confirm the diagnosis of LGMD2B [6].
• Genetic Testing: Genetic testing can identify mutations in the DYSF gene, which is associated with autosomal recessive limb-girdle muscular dystrophy type 2B [1].

Other Diagnostic Tests:

• A clinical resource may also recommend a creatine kinase blood test as part of the diagnostic process for LGMDs, including LGMD2B [5].
• In some cases, a muscle biopsy and a blood sample may be needed to determine the causes of LGMD in an individual [9].

Important Note:

Without genetic testing, diagnostic testing can typically lead to a general diagnosis of a LGMD, with limited ability to determine the subcategory. Most cases of LGMD2B are diagnosed through a combination of clinical assessment and genetic testing [4].

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) is a rare genetic disorder that affects the muscles around the shoulders and hips. While there is no specific treatment for LGMD2B, various strategies can help manage its symptoms.

Current Treatment Options:

• Physical therapy: Regular exercise and physical activity can help maintain muscle strength and mobility.
• Assistive devices: Using assistive devices such as walkers or wheelchairs can help individuals with LGMD2B to move around safely and comfortably.
• Medications: Various medications may be prescribed to manage symptoms such as pain, fatigue, and muscle spasms. However, these medications are not specific to LGMD2B and are typically used to treat other conditions.

No Specific Treatment Available:

Unfortunately, there is no specific treatment available for autosomal recessive limb-girdle muscular dystrophy type 2B. The current treatment options focus on managing symptoms and improving quality of life.

References:

• [1] No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential. (Source: Search Result 3)
• Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. (Source: Search Result 5)

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

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a rare genetic disorder characterized by progressive muscle weakness and atrophy, primarily affecting the pelvic and shoulder girdle muscles. To establish an accurate diagnosis, it's essential to consider other conditions that may present with similar symptoms.

Key Conditions to Consider:

• Dysferlin myopathy: This condition is caused by mutations in the DYSF gene, leading to a deficiency of dysferlin protein. It's characterized by muscle weakness and atrophy, particularly affecting the pelvic and shoulder girdle muscles [5].
• Telethonin-related muscular dystrophy type 2G: This rare form of LGMD is caused by mutations in the TNNT1 gene, leading to a deficiency of telethonin protein. It's characterized by muscle weakness and atrophy, primarily affecting the pelvic and shoulder girdle muscles [4].
• Other forms of autosomal recessive LGMD: These conditions are caused by mutations in different genes, such as the DYSF gene (dysferlin myopathy) or the TNNT1 gene (telethonin-related muscular dystrophy type 2G). They may present with similar symptoms to LGMD2B [6].

Diagnostic Criteria:

To establish a diagnosis of autosomal recessive LGMD2B, it's essential to consider the following criteria:

• Genetic testing: Confirming mutations in the DYSF gene or other relevant genes can help establish a diagnosis.
• Clinical evaluation: A thorough clinical evaluation, including muscle strength and atrophy assessments, can help differentiate LGMD2B from other conditions.
• Family history: A family history of similar symptoms can support a diagnosis of autosomal recessive inheritance.

References:

[1] - [9]

Note: The numbers in the references correspond to the search results provided in the context.