autosomal recessive limb-girdle muscular dystrophy type 2M

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M (LGMD2M) is a rare form of muscular dystrophy that affects the muscles around the pelvis and lower back. It is characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness, with severe weakness noted in the calf muscles [1]. This condition is caused by mutations in the gene responsible for encoding calpain 3, a protein essential for muscle function.

The clinical features of LGMD2M include:

• Calf muscle hypertrophy
• Flexion contracture
• Frequent falls
• Gowers sign
• Hyperlordosis
• Hypoglycosylation of alpha-dystroglycan
• Hypotonia

LGMD2M 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 [4]. This form of inheritance affects both sexes equally [7].

It's worth noting that LGMD2M is part of a larger group of conditions known as limb-girdle muscular dystrophies, which are characterized by progressive muscle weakness and wasting around the pelvis and lower back.

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a rare genetic disorder that affects the muscles around the shoulders and hips. The signs and symptoms of LGMD2M can vary in severity and onset, but here are some common features:

• Muscle weakness: The most common symptom of LGMD2M is muscle weakness, particularly in the proximal muscles (those closest to the trunk) of the upper and lower limbs [1].
• Pelvic muscle weakness: Pelvic muscle weakness is often the first symptom to appear, followed by weakness in other muscles around the hips and shoulders [4].
• Asymmetric or distal weakness: In some cases, LGMD2M can cause asymmetric or distal weakness, which means that one side of the body may be more affected than the other, or that the weakness affects the hands or feet rather than the proximal muscles [4].
• Muscle atrophy: As the disease progresses, muscle atrophy (shrinkage) can occur, particularly in the affected muscles around the shoulders and hips.
• Elevated CK levels: Individuals with LGMD2M often have elevated creatine kinase (CK) levels, which is a marker of muscle damage [7].

It's worth noting that the symptoms of LGMD2M can be similar to those of other forms of limb-girdle muscular dystrophy, so a precise diagnosis may require genetic testing and evaluation by a medical professional.

References: [1] - Context 4 [4] - Context 4 [7] - Context 7

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a rare genetic disorder that affects the muscles around the shoulders and hips. Diagnostic tests for LGMD2M are crucial in confirming the diagnosis, which can be challenging due to its rarity.

Diagnostic Tests:

• Creatine Kinase Testing: This test measures the level of creatine kinase (CK) in the blood. High levels of CK are often associated with autosomal recessive limb-girdle muscular dystrophies, including LGMD2M [3].
• Muscle Biopsy: A muscle biopsy involves taking a small sample of muscle tissue from the affected area. This test can help confirm the diagnosis by showing characteristic changes in the muscle fibers [9].
• Genetic Testing: Genetic testing for genes associated with limb-girdle muscular dystrophy, such as calpain 3 gene mutations, can be considered to confirm a diagnosis of LGMD2M [8].

Other Tests:

• Clinical Genetic Test: A clinical genetic test offered by MVZ Dr. Eberhard & Partner Dortmund may also include testing for conditions like autosomal recessive limb-girdle muscular dystrophy type 2M [1].
• Sanger Sequencing Panel: Prevention Genetics offers a Sanger sequencing panel that includes genes associated with autosomal dominant LGMD, which may also be relevant for diagnosing LGMD2M [6].

It's essential to consult with a healthcare professional or a genetic counselor to determine the best diagnostic approach for an individual suspected of having LGMD2M.

Treatment Options for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2M

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2M is a rare genetic disorder that affects the muscles around the shoulders and hips. While there is no specific treatment available for this condition, various strategies can help manage symptoms and improve quality of life.

• Symptom Management: Treatment involves managing symptoms with various strategies, such as physical therapy, assistive devices, and medications [6].
• Corticosteroids: Corticosteroids have been used in some patients with LGMD 2C-F, giving improvement in some reported cases [9]. However, it is essential to note that corticosteroids may not be effective for all individuals with autosomal recessive LGMD type 2M.
• Gene Therapy and Exon Skipping: Research has explored potential treatments like gene therapy and exon skipping, which aim to modify or replace the faulty gene responsible for the condition [8]. However, these approaches are still in the experimental stages and not yet widely available.

It is crucial to consult with a healthcare professional for personalized advice on managing symptoms and exploring treatment options. They can help determine the best course of action based on individual circumstances.

References: [6] Dec 12, 2023 — Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. [8] by C Bouchard · 2023 · Cited by 10 — In the last decade, multiple other potential treatments were developed and studied, such as stem-cell transplantation, exon skipping, gene delivery, RNAi, and ... [9] Possible drug treatment. Corticosteroids have been used in some patients with LGMD 2C-F, giving improvement in some reported cases. [6] Dec 12, 2023 — Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications.

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

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2M, also known as LGMD-R13, is a rare genetic disorder caused by mutations in the FKTN gene. The differential diagnosis of this condition involves distinguishing it from other forms of LGMD and neuromuscular disorders.

Key Features to Consider:

• Inheritance Pattern: Autosomal recessive inheritance pattern [2]
• Muscle Weakness: Progressive muscle weakness, particularly in the shoulder and hip girdles [4]
• Genetic Cause: Mutations in the FKTN gene [3]

Differential Diagnosis from Other Forms of LGMD:

• LGMD Type 1 (Calpainopathy): While both conditions share similar clinical features, LGMD type 1 is caused by mutations in the CAPN3 gene and has a distinct genetic cause [5]
• Sarcoglycanopathies: These conditions are also characterized by muscle weakness and have a different genetic cause, involving mutations in sarcoglycan genes [6]

Diagnostic Tools:

• Magnetic Resonance Imaging (MRI): MRI of muscles can help differentiate some forms of LGMD, including LGMD type 2M [7]
• Muscle Biopsy: A muscle biopsy may be necessary to confirm the diagnosis and rule out other conditions [10]

References:

[1] Walton and Nattrass first proposed limb-girdle muscular dystrophy (LGMD) as a nosological entity in 1954.

[2] Sep 1, 2019 — Limb-girdle muscular dystrophy type 2 includes forms of the disorder that have an inheritance pattern called autosomal recessive.

[3] by C Bouchard · 2023 · Cited by 10 — LGMD 2M (LGMD R13) is linked to a mutation in the FKTN gene.

[4] Dec 12, 2023 — Limb-girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies that cause muscle weakness in your shoulders, upper arms, hips and upper legs.

[5] The similarity in clinical features of X-linked Becker muscular dystrophy (BMD) and the autosomal recessive limb-girdle (LGD) type of adult muscular dystrophy makes differential diagnosis of the isolated male case difficult.

[6] Frequency of autosomal recessive limb girdle muscular dystrophy subtypes in Japan. LGMD-R2 (dysferlin-related LGMD) and LGMD-R1 (calpain 3-related LGMD) are the most common LGMD subtypes in Japan.

[7] Limb-girdle muscular dystrophy (LGMD) is an umbrella term given to a group of rare, highly heterogeneous, autosomal neuromuscular disorders.