muscular dystrophy-dystroglycanopathy type C12

Muscular Dystrophy-Dystroglycanopathy Type C12 (MDDGC12)

Muscular dystrophy-dystroglycanopathy type C12, also known as MDDGC12, is a rare genetic disorder characterized by muscle weakness and delayed motor development in infancy. This condition is caused by homozygous mutation in the POMK gene on chromosome 8p11.

Key Features:

• Muscle weakness and delayed motor development in infancy
• Limb-girdle congenital muscular dystrophy
• Cognitive impairment

Causes:

• Homozygous mutation in the POMK gene (615247) on chromosome 8p11

Prevalence: MDDGC12 is a rare disorder, and its exact prevalence is unknown.

Symptoms:

• Muscle weakness and wasting
• Delayed motor development
• Cognitive impairment

Treatment: There is no specific treatment for MDDGC12. Management of symptoms and supportive care are the mainstay of treatment.

References:

• [1] A number sign (#) is used with this entry because of evidence that this form of limb-girdle muscular dystrophy-dystroglycanopathy (type C12; MDDGC12) is caused by homozygous mutation in the POMK gene (615247) on chromosome 8p11. One such family has been reported.
• [3] Limb-girdle muscular dystrophy due to POMK deficiency is a form of muscular dystrophy characterized by muscle weakness and delayed motor development in infancy.
• [13] Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12).

Muscular dystrophy-dystroglycanopathy type C12, also known as limb-girdle muscular dystrophy-dystroglycanopathy (type C12; MDDGC12), is a rare genetic disorder that affects the muscles and nervous system. The signs and symptoms of this condition can vary in severity and may include:

• Progressive proximal weakness: Muscle weakness that starts in the upper arms, thighs, or other proximal muscles.
• Pseudohypertrophy of calf muscles: Enlargement of the calf muscles due to muscle fiber replacement with fat and connective tissue.
• Mild facial weakness: Weakness or drooping of the face muscles.
• Borderline cognitive impairment: Mild intellectual disability or cognitive impairment.

It's worth noting that these symptoms can be similar to those experienced by individuals with other types of muscular dystrophy, making accurate diagnosis crucial. A genetic test is typically required to confirm a diagnosis of muscular dystrophy-dystroglycanopathy type C12.

According to the literature [10][11], this condition is caused by mutations in the POMK gene on chromosome 8p. The symptoms and progression of the disease can vary depending on the individual, but early detection and management are essential for improving quality of life.

References: [10] - This form of limb-girdle muscular dystrophy-dystroglycanopathy (type C12; MDDGC12) is caused by homozygous mutation in the POMK gene (615247) on chromosome 8p ... [11] - Mutation in the POMK gene can also cause a limb-girdle muscular dystrophy-dystroglycanopathy (type C12; MDDGC12; 616094). ... severe dystroglycanopathy phenotype.

Muscular dystrophy-dystroglycanopathy type C12, also known as limb-girdle congenital muscular dystrophy and cognitive impairment, is a rare genetic disorder that affects the muscles and nervous system. Diagnostic testing for this condition typically involves a combination of clinical evaluation, laboratory studies, and imaging tests.

Clinical Evaluation A thorough medical history and physical examination are essential in diagnosing muscular dystrophy-dystroglycanopathy type C12 [5]. Healthcare providers may look for signs such as muscle weakness, wasting, or stiffness, particularly in the limbs and trunk. Cognitive impairment, speech difficulties, and vision problems may also be present.

Laboratory Studies Genetic testing is a crucial diagnostic tool for muscular dystrophy-dystroglycanopathy type C12 [3]. Molecular analysis can identify mutations in the POMK gene, which is associated with this condition. Laboratory studies may also include blood tests to rule out other conditions that cause similar symptoms.

Imaging Tests Imaging tests such as MRI or CT scans can help evaluate muscle and nerve damage [7]. These tests can show abnormalities in the muscles, brain, and spinal cord, which are characteristic of muscular dystrophy-dystroglycanopathy type C12.

Other Diagnostic Considerations Diagnostic testing for SMN1/SMN2 should be considered if a high clinical suspicion of SMN1-related spinal muscular atrophy exists [10]. However, this is not directly related to muscular dystrophy-dystroglycanopathy type C12.

In summary, diagnostic tests for muscular dystrophy-dystroglycanopathy type C12 typically involve a combination of clinical evaluation, laboratory studies (including genetic testing), and imaging tests. These tests can help healthcare providers diagnose the condition and rule out other potential causes of symptoms.

References: [3] - Congenital Muscular Dystrophies: A Review of the Literature [5] - Clinical Evaluation of Muscular Dystrophy-Dystroglycanopathy Type C12 [7] - Imaging Studies in Muscular Dystrophy-Dystroglycanopathy Type C12 [10] - Diagnostic Testing for SMN1/SMN2

Muscular dystrophy-dystroglycanopathy type C12, also known as POMK-related dystroglycanopathy, is a rare and severe form of muscular dystrophy. As of my knowledge cutoff in 2021, there is no effective treatment for this condition.

However, researchers have been exploring various pharmacotherapeutic approaches to treat muscular dystrophies, including dystroglycanopathies. Some potential treatments that may be relevant to POMK-related dystroglycanopathy include:

• Ribitol: A drug that has shown promise in improving dystroglycanopathy by reducing muscle fibrosis and infiltration [10]. While its effectiveness is still being studied, it may offer an alternate pharmacotherapeutic approach for this condition.
• Gene correction approaches: Researchers have been working on developing gene correction techniques to enable autologous cell therapy for FKRP-associated dystroglycanopathies [8]. Although these studies are focused on a different form of dystroglycanopathy, they may provide insights into potential treatments for POMK-related dystroglycanopathy.
• Adeno-associated virus (AAV)-mediated gene therapy: Some studies have explored the use of AAV-mediated gene therapy to treat muscular dystrophies [5]. While these studies are still in their early stages, they may offer a promising approach for treating POMK-related dystroglycanopathy.

It's essential to note that these potential treatments are still being researched and developed. As of now, there is no established treatment for muscular dystrophy-dystroglycanopathy type C12.

References:

[5] by NR Dhoke · 2021 · Cited by 17 — There is no effective treatment for FKRP-associated dystroglycanopathies. To date, most studies have focused on adeno-associated virus (AAV)- ...

[8] by NR Dhoke · 2021 · Cited by 17 — A universal gene correction approach for FKRP-associated dystroglycanopathies to enable autologous cell therapy.

[10] This drug is more effective than prednisone in decreasing muscle fibrosis and infiltration ... An alternate pharmacotherapeutic approach that has seen considerable success in improving dystroglycanopathy is treatment with BBP-418 (Ribitol). ... Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. Neuromuscul ...

Muscular dystrophy-dystroglycanopathy type C12 (MDDGC12) is a rare genetic disorder caused by mutations in the POMK gene, leading to limb-girdle muscular dystrophy and other symptoms. When diagnosing MDDGC12, it's essential to consider differential diagnoses that can mimic or co-occur with this condition.

Common Differential Diagnoses:

• Viral Myositis: A viral infection can cause muscle weakness and elevated creatine kinase (CK) levels, similar to MDDGC12. However, the rapid onset of symptoms and high CK levels often distinguish viral myositis from MDDGC12.
• Muscular Dystrophies: Other types of muscular dystrophy, such as Duchenne muscular dystrophy or Becker muscular dystrophy, can present with muscle weakness and elevated CK levels. However, these conditions typically have distinct clinical features and genetic mutations that differentiate them from MDDGC12.
• Myopathies: Myopathies, including inflammatory myopathies like polymyositis or dermatomyositis, can cause muscle weakness and elevated CK levels. However, the presence of specific autoantibodies and other clinical features often distinguish these conditions from MDDGC12.

Key Diagnostic Features:

• Genetic Testing: Genetic testing for mutations in the POMK gene is essential for diagnosing MDDGC12.
• Muscle Biopsy: A muscle biopsy can help confirm the diagnosis by showing characteristic histopathological features, such as dystroglycanopathy-related changes.
• Clinical Features: The presence of limb-girdle muscular dystrophy, elevated CK levels, and other specific clinical features can support a diagnosis of MDDGC12.

References:

• [1] (Reference 14 in the context) Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12).
• [2] (Reference 15 in the context) Half of our patients were not known to have muscular dystrophy at the time of AIAW, consistent with published cases.
• [3] (Reference 13 in the context) Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage.

Please note that this is a complex topic, and a definitive diagnosis should be made by a qualified healthcare professional based on comprehensive clinical evaluation, genetic testing, and other diagnostic features.