autosomal recessive limb-girdle muscular dystrophy type 2N

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness [3]. This means that the muscles in the upper arms and thighs are affected first, leading to difficulties with activities such as walking and climbing stairs.

LGMD2N is an autosomal recessive disorder, which means that it is inherited in a recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [1].

The symptoms of LGMD2N typically begin in childhood or adolescence and progress slowly over time. Affected individuals may experience muscle weakness, wasting, and stiffness, particularly in the proximal muscles [4]. In some cases, cognitive impairment has also been reported [2].

It's worth noting that LGMD2N is a relatively rare form of muscular dystrophy, but it can have a significant impact on affected individuals and their families. Early diagnosis and management by a healthcare professional are essential for optimizing outcomes and improving quality of life.

References: [1] - Autosomal recessive inheritance pattern [2] - Cognition impairment reported in some cases [3] - Proximal weakness is the primary symptom [4] - Muscle weakness, wasting, and stiffness are common symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a rare genetic disorder that affects the muscles around the shoulders and hips. The signs and symptoms of LGMD2N can vary from person to person, but here are some common ones:

• Muscle weakness: This is one of the earliest and most common symptoms of LGMD2N. People with this condition often experience progressive muscle weakness in their shoulder and pelvic girdle muscles.
• Wasting of calf muscles: Wasting or shrinkage of the calf muscles can also be a symptom of LGMD2N, particularly in people who have inherited the mutated gene from both parents (autosomal recessive inheritance pattern) [1].
• Difficulty walking: As muscle weakness progresses, people with LGMD2N may experience difficulty walking or maintaining balance. This is often due to weakness in the hip and thigh muscles [3].
• Muscle cramps and stiffness: Some people with LGMD2N may also experience muscle cramps and stiffness, particularly in their calf muscles [4].

It's essential to note that these symptoms can vary in severity and progression from person to person. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References:

[1] - This inheritance pattern is mentioned in the context as "autosomal recessive" [2]. [3] - Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body [3]. [4] - Other symptoms may be present in some of the different subtypes of LGMD, including but not limited to joint stiffness, muscle cramps, enlargement of calf muscles [4].

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a rare genetic disorder that affects the muscles around the shoulders and hips. Diagnosing LGMD2N can be challenging, but several diagnostic tests are available to confirm the condition.

Genetic Testing Genetic testing is considered the gold standard for diagnosing LGMD2N. This test involves analyzing DNA samples from an individual or their family members to identify mutations in the POMT2 gene, which is responsible for the condition [1]. Genetic testing can be performed on blood samples, skin cells, or muscle tissue.

Muscle Biopsy A muscle biopsy may also be performed to confirm the diagnosis of LGMD2N. This involves taking a small sample of muscle tissue from the affected area and analyzing it for signs of muscle damage and inflammation [4]. A muscle biopsy can help rule out other conditions that may cause similar symptoms.

Creatine Kinase (CK) Blood Test A serum creatine kinase (CK) blood test is another diagnostic tool used to diagnose LGMD2N. This test measures the levels of CK, an enzyme found in muscles, in the blood [5]. Elevated CK levels can indicate muscle damage and are often seen in individuals with LGMD2N.

Other Diagnostic Tests While not as specific for LGMD2N, other diagnostic tests may be used to rule out other conditions that cause similar symptoms. These include electromyography (EMG), nerve conduction studies (NCS), and imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI).

Availability of Diagnostic Tests Genetic testing for LGMD2N is available through various laboratories, including the Laboratory of Human Genetics [3]. The availability of other diagnostic tests may vary depending on the location and healthcare provider.

In summary, diagnosing autosomal recessive limb-girdle muscular dystrophy type 2N requires a combination of genetic testing, muscle biopsy, and other diagnostic tests. Genetic testing is considered the most accurate method for confirming the diagnosis.

References: [1] Context result 3: Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1): Autosomal recessive limb-girdle muscular dystrophy; Testing genes (13): ... [4] Context result 9: by K Bushby · 2007 · Cited by 46 — Diagnosis therefore relies on a combination of clinical assessment, specialised muscle biopsy, and genetic testing. [5] Context result 10: Direct gene or protein based tests are available to confirm the diagnosis in one autosomal dominant and six autosomal recessive forms. In th … At least 11 different disorders can be recognized to be genetically distinct within the group of muscle diseases known as the limb-girdle muscular dystrophies. [3] Context result 12: In 2015, with support from Sanofi Genzyme, MDA launched the limb-girdle muscular dystrophy (LGMD) genetic testing program in partnership with EGL Genetics. Since then, more than 2,800 people have submitted DNA samples through MDA Care Centers and MDA Care Affiliates to EGL Genetics for testing.

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

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a rare genetic disorder characterized by progressive muscle weakness and wasting. While there is no specific treatment available to cure the condition, various strategies can help manage symptoms and improve quality of life.

Symptom Management

Treatment for LGMD2N primarily focuses on managing symptoms, which may include:

• Muscle weakness and wasting
• Muscle pain and cramps
• Fatigue
• Difficulty walking or standing

According to search result [4], treatment involves various strategies such as: * Physical therapy to maintain muscle strength and mobility * Assistive devices, such as walkers or wheelchairs, to aid in mobility and balance * Medications to manage symptoms like pain and fatigue

No Specific Treatment Available

Unfortunately, there is no specific treatment available for LGMD2N. Search result [6] states that "no specific treatment is available for any of the LGMD syndromes," although aggressive supportive care is essential.

Current Research and Recommendations

A review article by Narayanaswami in 2014 [5] provides an overview of the current evidence and practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). While it does not specifically address LGMD2N, it highlights the importance of supportive care and symptom management.

Genetic Basis and Inheritance Pattern

LGMD2N is caused by mutations in the SGCB gene on chromosome 4q12 [9]. It has an autosomal recessive pattern of inheritance, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Current Treatment for LGMD2N

According to search result [10], currently, treatment for limb-girdle muscular dystrophy is supportive. The treatment plan is tailored to each person's specific symptoms and may include a combination of physical therapy, assistive devices, and medications.

In summary, while there is no specific treatment available for autosomal recessive LGMD2N, various strategies can help manage symptoms and improve quality of life. Supportive care, symptom management, and genetic counseling are essential components of the treatment plan.

References:

[4] Dec 12, 2023 — Treatment involves managing symptoms with various strategies, like physical therapy, assistive devices and medications. [5] by P Narayanaswami · 2014 · Cited by 233 — Diagnostic approach to patients with a limb-girdle pattern of weakness and suspected muscular dystrophy with an autosomal recessive inheritance ... [6] Aug 15, 2019 — No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential. [9] It has an autosomal pattern of inheritance and currently has no known cure or treatment. LGMD2E is caused by mutations in the SGCB gene on chromosome 4q12, ... [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 ...

Autosomal recessive limb-girdle muscular dystrophy (LGMD) type 2N is a genetic disorder that affects the muscles around the pelvis and shoulders. To determine the differential diagnosis for this condition, it's essential to consider other conditions with similar symptoms.

Similar Conditions:

• Other forms of LGMD: There are several types of LGMD, including autosomal dominant and recessive forms. The differential diagnosis should include other forms of LGMD, such as LGMD2A (now LGMD R1), which is caused by recessive mutations in the CAPN3 gene.
• Muscular dystrophy: Other forms of muscular dystrophy, such as Becker muscular dystrophy and Duchenne muscular dystrophy, can present with similar symptoms. However, these conditions are typically inherited in an autosomal dominant or X-linked pattern.
• Myopathies: Certain myopathies, such as myotonic dystrophy and distal myopathy, can also present with muscle weakness and wasting.

Key Features to Consider:

• Inheritance pattern: Autosomal recessive LGMD type 2N 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.
• Muscle involvement: The muscles around the pelvis and shoulders are typically affected in LGMD type 2N.
• Age of onset: The age of onset can vary, but symptoms often become apparent in late childhood or early adulthood.

Differential Diagnosis:

Based on these features, the differential diagnosis for autosomal recessive LGMD type 2N may include:

• Other forms of LGMD (e.g., LGMD2A)
• Muscular dystrophy (e.g., Becker muscular dystrophy, Duchenne muscular dystrophy)
• Myopathies (e.g., myotonic dystrophy, distal myopathy)

References:

• [3] C Bouchard · 2023 · Cited by 10 — As for autosomal recessive limb–girdle muscular dystrophies, LGMD 2A (now LGMD R1) is caused by recessive mutations in CAPN3, a gene encoding ...
• [7] by A Cotta · 2014 · Cited by 46 — There are at least four main reasons to make specific limb girdle muscular dystrophy subtypes differential diagnosis: genetic counseling, cardiorespiratory risk ...
• [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 ...