autosomal recessive limb-girdle muscular dystrophy type 2F

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a specific set of clinical features.

Clinical Features:

• Progressive weakness and wasting of the proximal muscles, including those in the pelvic and shoulder regions [1]
• Variable age of onset, with some individuals experiencing symptoms from childhood to adulthood [3]
• Muscular dystrophy affecting the pelvifemoral muscles, leading to weakness and atrophy [5]

Genetic Cause:

LGMD2F is caused by mutations in the SGCD gene, which encodes a protein essential for muscle function [4]. Specifically, homozygous or compound heterozygous mutations in the DYSF gene (DYSF; 603009) on chromosome 2p13 have been identified as the genetic cause of this condition [8].

Inheritance Pattern:

LGMD2F follows an autosomal recessive inheritance pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to express the condition [1][9]. This is in contrast to autosomal dominant conditions, where a single copy of the mutated gene is sufficient.

References:

• [1] Context result 2
• [3] Context result 7
• [4] Context result 4
• [5] Context result 5
• [8] Context result 8
• [9] Context result 9

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2F is a rare genetic disorder that affects the muscles of the shoulders, hips, and thighs. The main symptoms of this condition are:

• Progressive muscle weakness: Muscle weakness and atrophy (loss) in the shoulder and pelvic girdles, which can lead to difficulty walking, climbing stairs, or performing daily activities.
• Muscle wasting: Wasting of muscles in the affected areas, particularly in the proximal limbs (close to the body core).
• Scapular winging: Weakness of the shoulder muscles can cause the shoulder blades (scapulae) to protrude, a sign known as scapular winging.
• Abnormal gait: A waddling gait or difficulty walking due to muscle weakness and atrophy in the pelvic girdle.

These symptoms typically begin in childhood or adolescence and progress slowly over time. The rate of progression can vary depending on the individual, but it is generally a gradual decline in muscle strength and function.

It's worth noting that LGMD type 2F is inherited in an autosomal recessive pattern, which means that both parents carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition themselves. However, they can pass on the mutated gene to their children, who may develop the condition.

References:

• [3] Kudryashova, E., Kudryashov, D., Kramerova, I. & Spencer, M. J. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin ...
• [4] Limb-girdle muscular dystrophy can have different inheritance patterns. Most forms of this condition are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
• [7] Signs and symptoms of LGMD include progressive weakness and muscle atrophy involving the shoulders, pelvic girdle, or both.
• [8] Additional clinical features include a waddling gait, muscle pain during exercise, hypertrophy of the deltoids and quadriceps, and muscle wasting, affecting ...
• [9] Clinical features · Abnormality of limbs. Pelvic girdle muscle weakness; Shoulder girdle muscle weakness · Abnormality of metabolism/homeostasis. Elevated ...

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2F is a rare genetic disorder that affects the muscles around the shoulders and hips. Diagnosing this condition can be challenging, but several diagnostic tests are available to help confirm the diagnosis.

Diagnostic Tests for LGMD Type 2F:

• Creatine kinase blood test: This test measures the level of creatine kinase (CK) in the blood, which is an enzyme found in muscles. Elevated CK levels are often seen in individuals with LGMD type 2F [2].
• Muscle imaging with computed tomography (CT): CT scans can help identify muscle damage and atrophy, which are characteristic features of LGMD type 2F [3].
• Biochemical protein testing on muscle biopsies: This test involves analyzing a sample of muscle tissue to detect abnormal proteins that may be associated with LGMD type 2F. The results are then confirmed with genetic testing [4].

Genetic Testing:

• Limb Girdle Muscular Dystrophy (LGMD) Panel Clinical Genetic Test: This test is offered by PreventionGenetics, part of Exact Sciences, and can help identify the specific genetic mutation responsible for LGMD type 2F [5].
• Genetic testing on muscle biopsies: This test involves analyzing a sample of muscle tissue to detect abnormal genes that may be associated with LGMD type 2F. The results are then confirmed with biochemical protein testing [4].

Other Diagnostic Tests:

• Muscle biopsy: A muscle biopsy can help identify muscle damage and atrophy, which are characteristic features of LGMD type 2F [8].
• Blood sample analysis: Analyzing a blood sample can help detect abnormal proteins or genes associated with LGMD type 2F [8].

It's essential to note that diagnosing LGMD type 2F often requires a combination of these tests, as well as a thorough clinical assessment and family history evaluation. A healthcare professional will work with you to determine the best course of action for diagnosis and treatment.

References: [1] Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1) [2] Dec 12, 2023 — If they suspect you or your child has LGMD, they may recommend any of the following diagnostic tests: Creatine kinase blood test [3] 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) [4] Diagnosis of a specific LGMD subtype can be achieved by biochemical protein testing performed on muscle biopsies, followed by confirmation with genetic testing. [5] Limb Girdle Muscular Dystrophy (LGMD) Panel Clinical Genetic Test. Help offered by PreventionGenetics, part of Exact Sciences. [6] Sep 1, 2019 — Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive . [7] by K Bushby · 2007 · Cited by 46 — Diagnosis therefore relies on a combination of clinical assessment, specialised muscle immunoanalysis and genetic testing. In informative families, linkage [8] Quite often, complex tests may be needed to work out the causes of LGMD in an individual, which may include examination of a muscle biopsy and a blood sample

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F, also known as LGMD2F, is a rare and severe form of muscular dystrophy. While there is no specific drug treatment available for this condition, researchers have been exploring various therapeutic strategies to manage its symptoms.

Current Treatment Options

According to recent studies [4][10], the current treatment approach for LGMD2F involves managing symptoms with various supportive care strategies, such as:

• Physical therapy to maintain muscle strength and mobility
• Assistive devices, like wheelchairs or walkers, to aid in mobility and daily activities
• Medications to alleviate pain and discomfort

Emerging Therapies

Researchers are actively investigating several emerging therapies that may potentially benefit individuals with LGMD2F [9]. These include:

• Gene therapy: aimed at correcting the genetic defect responsible for the condition
• Exon skipping: a technique that allows the production of a functional protein despite the genetic mutation
• Stop codon read-through: a strategy to bypass the premature stop codons in the mutated gene
• Myostatin blocking: a treatment approach that aims to increase muscle mass and strength

While these emerging therapies hold promise, it's essential to note that they are still in the experimental stages, and more research is needed to determine their efficacy and safety for LGMD2F patients.

Consulting a Healthcare Professional

It's crucial for individuals with LGMD2F to consult with a healthcare professional for personalized medical advice and treatment. They can help develop a tailored care plan that addresses each person's specific symptoms and needs [7].

References:

[4] Dec 12, 2023 — Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. [9] These strategies include gene therapy, exon skipping, stop codon read through, and myostatin blocking. To learn more, read The Changing Landscape of LGMD ... [7] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Autosomal recessive limb-girdle muscular dystrophy type ... [10] Sep 17, 2024 — Currently, treatment for limb-girdle muscular dystrophy is supportive. The treatment plan is tailored to each person's specific symptoms and may ...

The differential diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2F involves distinguishing it from other forms of muscular dystrophies. Here are some key points to consider:

• Facioscapulohumeral muscular dystrophy: This is a form of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms. It can be inherited in an autosomal dominant pattern, but it's not typically associated with autosomal recessive inheritance.
• Emery-Dreifuss muscular dystrophy: This is another type of muscular dystrophy that primarily affects the muscles of the upper arms and lower legs. It's often inherited in an autosomal dominant pattern, but can also be caused by mutations in the LMNA gene.
• Congenital muscular dystrophy: This is a group of disorders characterized by muscle weakness and wasting present at birth or early childhood. While it can be associated with various genetic mutations, it's not typically linked to autosomal recessive inheritance.

According to recent studies [8], the LGMD R group, which includes autosomal recessive limb-girdle muscular dystrophy type 2F, can be distinguished from other forms of muscular dystrophies through genetic and protein analysis. This involves examining the specific mutations responsible for each condition.

In terms of specific diagnostic criteria, a study by Cotta et al. [7] highlights four main reasons to make specific limb-girdle muscular dystrophy subtypes differential diagnosis:

• Genetic counseling
• Cardiorespiratory risk assessment
• Muscle immunoanalysis
• Predicting the genotype based on muscle immunoanalysis

These factors can help clinicians accurately diagnose and differentiate autosomal recessive limb-girdle muscular dystrophy type 2F from other forms of muscular dystrophies.

References:

[7] Cotta, A. (2014). Specific limb girdle muscular dystrophy subtypes differential diagnosis: why and how? Journal of Neurology, 261(9), 1721-1735.

[8] 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.