muscular dystrophy-dystroglycanopathy type B14

Muscular Dystrophy-Dystroglycanopathy Type B14: A Rare Congenital Disorder

Muscular dystrophy-dystroglycanopathy type B14, also known as MDDGB14, is a rare autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development [1][2]. This condition is caused by mutations in the GMPPB gene on chromosome 3p21.31 [4][7].

Key Features:

• Severe muscle weakness apparent in infancy
• Impaired intellectual development
• Elevated circulating creatine kinase concentration [10]

Genetic Basis: MDDGB14 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 [1][2]. The GMPPB gene plays a crucial role in the production of dystroglycan, a protein essential for muscle function and development.

References:

[1] Context result 1 [2] Context result 2 [4] Context result 4 [7] Context result 7 [10] Context result 10

Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) type B14, also known as MDDGB14, is a rare genetic disorder characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may experience additional features such as:

• Microcephaly (small head size)
• Cardiac dysfunction
• Seizures
• Cerebellar hypoplasia (underdeveloped cerebellum)

Muscle weakness can be progressive, meaning it can worsen over time, and may affect different muscle groups. In some cases, feeding difficulties and breathing complications can develop.

According to clinical resources [2], the disorder is characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Some patients may have additional features such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.

The symptoms of muscular dystrophy-dystroglycanopathy type B14 can vary significantly depending on the individual, but common signs include:

• Slowly progressive weakness of pelvic and shoulder girdle muscles
• Waddling gait
• Scapular winging (shoulder blades protruding)
• Calf and tongue hypertrophy (enlargement)

It's essential to note that each type of muscular dystrophy can affect different muscles and parts of the body, and symptoms can get worse over time [12].

References: [2] Clinical resource with information about Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) type B14 [12] Symptoms of muscular dystrophy generally get worse over time.

Muscular dystrophy-dystroglycanopathy type B14, also known as MDDGB14, is a congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and impaired intellectual development. Diagnostic testing for this condition typically involves genetic analysis to identify mutations in the GMPPB gene.

Recommended Genetic Testing

Diagnostic testing of the GMPPB gene is recommended to identify a potential genetic basis for MDDGB14. This type of testing can inform prognosis and guide management decisions. The test method used is Exome Sequencing with CNV Detection, which is a New York State-approved test available via PGnome Sequencing.

Symptoms and Diagnostic Considerations

Symptoms of MDDGB14 include increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability. The diagnosis can be challenging, but genetic testing can confirm the presence of causative mutations in 30-66% of children with dystroglycanopathy.

Genetic Testing Confirmation

Studies have shown that genetic testing can detect causative mutations in a significant proportion of children with MDDGB14. For example, one study demonstrated that genetic testing confirmed a diagnosis of CMD in 22-26% of cases, while another study found that genetic testing detected causative mutations in 30-66% of children with dystroglycanopathy.

References

• Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type: clinical, genetic and pathological studies. Mol Genet Metab. 2013;110(2):345–351.
• Yang AC, Ng BG, Moore SA, et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013;110:345–351.

Note: The above information is based on the search results provided and may not be comprehensive or up-to-date. If you have any specific questions or would like further clarification, please let me know!

Muscular dystrophy-dystroglycanopathy type B14, also known as MDDGB14, is a severe form of congenital muscular dystrophy characterized by muscle weakness and impaired intellectual development. While there is no cure for this condition, various drug treatments have been explored to manage its symptoms.

Current Treatment Options

According to the search results, one potential treatment approach for muscular dystrophy-dystroglycanopathy type B14 is the use of acetylcholine esterase inhibitors (AChEIs) [7]. AChEIs are a class of drugs that have been shown to improve muscle strength and function in patients with certain types of muscular dystrophy.

Another treatment option mentioned is BBP-418 (Ribitol), which has been reported to be effective in improving dystroglycanopathy symptoms [12]. However, more research is needed to confirm the efficacy and safety of this treatment approach.

Other Therapeutic Approaches

In addition to these specific treatments, other therapeutic approaches may also be beneficial for patients with muscular dystrophy-dystroglycanopathy type B14. These include:

• Physical therapy: Regular physical activity can help maintain muscle strength and function [13].
• Occupational therapy: This type of therapy can help patients develop strategies to adapt to their condition and maintain independence [13].

Future Research Directions

While these treatment options show promise, further research is needed to fully understand the effectiveness and safety of these approaches. Ongoing studies are investigating new therapeutic targets and potential treatments for muscular dystrophy-dystroglycanopathy type B14.

References:

[7] Salam MAE (2023) - AChEIs as a treatment option for muscular dystrophy-dystroglycanopathy type B14. [12] Neuromuscul Disord - BBP-418 (Ribitol) as a potential treatment for dystroglycanopathy. [13] Muscular Dystrophy-Dystroglycanopathy, Type B, 14 - Clinical features and management.

Muscular dystrophy-dystroglycanopathy type B14, also known as congenital muscular dystrophy-dystroglycanopathy type B14, is a rare genetic disorder characterized by muscular dystrophy resulting from impaired glycosylation of dystroglycan without intellectual impairment [1]. The condition is caused by mutations in the POMT1 gene or other related genes [2].

The differential diagnosis for muscular dystrophy-dystroglycanopathy type B14 involves ruling out other conditions that may present with similar symptoms. Some of these conditions include:

• Congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities [5]
• Limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions caused by mutations in various genes [8]
• Muscular dystrophy, congenital, comprising 18 guideline-curated genes and altogether 72 curated genes [9]

To diagnose muscular dystrophy-dystroglycanopathy type B14 accurately, it is essential to consider the genetic and clinical features of the condition. This may involve genetic testing, such as the Invitae Limb-Girdle Muscular Dystrophy Panel, which analyzes genes associated with LGMD [8].

In addition, a comprehensive differential diagnostic panel for muscular dystrophy, congenital, may be used to rule out other conditions that may present with similar symptoms [9]. This panel includes 18 guideline-curated genes and altogether 72 curated genes.

It is also worth noting that the alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha-dystroglycan (α-DG) [6].

References: [1] Congenital muscular dystrophy-dystroglycanopathy type B14. (2018) [2] The condition is characterized by muscular dystrophy resulting from impaired glycosylation of dystroglycan without intellectual impairment. It is caused by ... (2018) [5] An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. (2014) [6] The alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha-dystroglycan (α-DG). (2014) [8] The Invitae Limb-Girdle Muscular Dystrophy Panel analyzes genes associated with limb-girdle muscular dystrophy (LGMD), a heterogeneous group of conditions. (2022) [9] Comprehensive differential diagnostic panel for Muscular dystrophy, congenital, comprising 18 guideline-curated genes and altogether 72 curated genes ... (2022)