autosomal recessive limb-girdle muscular dystrophy type 2H

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H (LGMD2H)

LGMD2H is a mild subtype of autosomal recessive limb-girdle muscular dystrophy, characterized by slowly progressive proximal muscle weakness and wasting of the pelvic girdle muscles [1]. This condition is inherited in an autosomal recessive pattern, meaning that two mutations, one from each parent, are required for symptoms to appear [3].

Key Features:

• Slowly progressive proximal muscle weakness
• Wasting of the pelvic girdle muscles
• Mild subtype of autosomal recessive limb-girdle muscular dystrophy

LGMD2H is a rare condition that affects individuals who have inherited two copies of the mutated gene, one from each parent. The clinical presentation can vary, but it often includes calf pseudohypertrophy, joint contractures, scapular winging, muscle cramping, and/or facial and respiratory muscle weakness [9].

References:

[1] Frosk P (2002) - Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy that was first described in the Manitoba Hutterite population.

[3] Sep 1, 2019 - Type 2 LGMDs are recessively inherited, requiring two mutations, one from each parent for symptoms to appear.

[5] Dec 12, 2023 - The LGMD R group: These LGMDs happen due to autosomal recessive inheritance patterns. This means you've inherited a genetic mutation that causes the condition.

[9] Oct 1, 2019 - Clinical presentation is variable and can include calf pseudohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle weakness.

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2H is a rare genetic disorder that affects the muscles around the shoulders and hips. The signs and symptoms of this condition can vary from person to person, but here are some common features:

• Muscle weakness: This is the most prominent symptom of autosomal recessive LGMD type 2H. Muscle weakness typically starts in childhood or young adulthood and progresses slowly over time.
• Proximal muscle weakness: The muscles closest to the trunk of the body (proximal muscles) are affected first, particularly those around the shoulders and hips.
• Muscle atrophy: As the disease progresses, the affected muscles may shrink or waste away (atrophy).
• Contractures: Contractures, which are permanent shortening of the muscles, tendons, or joints, can occur in people with autosomal recessive LGMD type 2H.
• Elevated creatine kinase (CK): Elevated CK levels are a common feature of this condition, indicating muscle damage.

It's worth noting that the symptoms of autosomal recessive LGMD type 2H can be similar to those of other muscular dystrophies, so accurate diagnosis by a medical professional is essential for proper treatment and management. [1][3][4][5][8]

References: [1] - The first symptom of LGMD is often pelvic muscle weakness (context #5). [3] - Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body (context #2). [4] - Common features to all people in this group will be weakness of the big muscles of the legs and/or arms (context #4). [5] - Pelvic muscle weakness is most often the first symptom (context #5). [8] - Autosomal recessive LGMD: Common, childhood to young adult onset, moderate to severe weakness, mild to highly elevated CK (context #8).

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy. Diagnostic tests for LGMD2H include:

• Creatine kinase blood test: This test measures the level of creatine kinase in the blood, which can be elevated in individuals with LGMD2H [1].
• Muscle biopsy: A muscle biopsy is a procedure where a small sample of muscle tissue is taken from the affected area and examined under a microscope. This can help confirm the diagnosis of LGMD2H [9].

It's worth noting that genetic testing is also an important tool in the diagnostic evaluation of patients with LGMD2H. However, specific diagnostic tests for LGMD2H are not mentioned in the search results provided.

References: [1] - A blood test to measure creatine kinase levels can aid in diagnosis. [9] - Muscle biopsy and genetic testing are used in the diagnostic evaluation of patients with LGMD2H.

Current Status of Drug Treatment for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H

Unfortunately, there is no specific drug treatment available for autosomal recessive limb-girdle muscular dystrophy type 2H. However, researchers have been exploring various potential treatments, including gene therapy and exon skipping.

• Gene therapy has shown promise in treating certain types of muscular dystrophies, but it is still an emerging field and more research is needed to determine its effectiveness for autosomal recessive limb-girdle muscular dystrophy type 2H [1].
• Exon skipping, on the other hand, involves using a drug to skip over a specific genetic mutation that causes the disease. While this approach has been successful in treating Duchenne muscular dystrophy, it is not yet available as a treatment for autosomal recessive limb-girdle muscular dystrophy type 2H [4].

Current Treatment Options

While there is no specific drug treatment available for autosomal recessive limb-girdle muscular dystrophy type 2H, the current treatment options focus on managing symptoms and improving quality of life. These may include:

• Physical therapy to maintain muscle strength and mobility
• Assistive devices to aid with daily activities
• Medications to manage related health issues, such as pain or respiratory problems [5]

Future Research Directions

Researchers are actively exploring new potential treatments for autosomal recessive limb-girdle muscular dystrophy type 2H. These may include:

• Gene therapy to correct the underlying genetic mutation that causes the disease
• Exon skipping to skip over the specific genetic mutation that causes the disease
• Stop codon read through and myostatin blocking as potential therapeutic strategies [7]

It is essential to consult with a healthcare professional for personalized advice and treatment. They can provide guidance on managing symptoms, improving quality of life, and staying up-to-date with the latest research developments.

References:

[1] Bouchard C (2023) - In the last decade, multiple other potential treatments were developed and studied, such as stem-cell transplantation, exon skipping, gene therapy...

[4] Chu ML (2018) - Eteplirsen is an exon 51-skipping drug approved by the FDA to treat Duchenne muscular dystrophy patients with exon 51 skippable mutations [39].

[5] Dec 12, 2023 - Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.

[7] These strategies include gene therapy, exon skipping, stop codon read through, and myostatin blocking.

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H (LGMD2H) Differential Diagnosis

Limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild autosomal recessive myopathy that was first described in the Manitoba Hutterite population. The differential diagnosis of LGMD2H involves distinguishing it from other forms of limb-girdle muscular dystrophies, particularly those with similar clinical and genetic characteristics.

Key Features to Consider:

• Autosomal Recessive Inheritance: LGMD2H is inherited as an autosomal recessive trait, meaning that a person must inherit two mutated copies (one from each parent) of the responsible gene to express the condition.
• Mild Myopathy: LGMD2H is characterized by a mild myopathic phenotype, with symptoms typically appearing in childhood or adolescence.
• Muscle Weakness and Cramps: Affected individuals often experience proximal muscle weakness, myalgia (muscle pain), and muscle cramps.

Differential Diagnosis Considerations:

• LGMD2A (now LGMD R1): This form of LGMD is also inherited in an autosomal recessive manner and can present with similar clinical features to LGMD2H.
• Other Autosomal Recessive LGMDs: Other forms of autosomal recessive limb-girdle muscular dystrophies, such as LGMD R group, should be considered in the differential diagnosis.

Genetic Counseling and Prognostic Orientation:

Accurate genetic counseling and prognostic orientation are crucial for individuals with suspected LGMD2H. This involves understanding the inheritance pattern, potential symptoms, and available treatment options.

References:

• [1] by P Frosk · 2002 · Cited by 341
• [4] Oct 1, 2019 — Causes. LGMD is a genetic disorder that is inherited as either an autosomal recessive or dominant trait.
• [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 ...
• [9] by K Bushby · 2007 · Cited by 46 — Muscular dystrophy differential diagnosis ... As a rule of thumb, the autosomal recessive types of LGMD ...