congenital muscular dystrophy-dystroglycanopathy type A10

Congenital Muscular Dystrophy-Dystroglycanopathy Type A10: An Overview

Congenital muscular dystrophy-dystroglycanopathy type A10, also known as MDDGA10 or RXYLT1 muscular dystrophy, is a rare and severe form of congenital muscular dystrophy. This condition is characterized by:

• Muscle weakness: Congenital muscular dystrophy resulting in muscle weakness early in life
• Brain and eye anomalies: Characteristic brain and eye malformations, including cobblestone lissencephaly
• Profound mental retardation: Delayed psychomotor development and shortened life expectancy

Causes and Genetics

This condition is caused by a homozygous or compound heterozygous mutation in the RXYLT1 gene on chromosome 12q14. The RXYLT1 gene encodes a transmembrane protein believed to have glycosyltransferase function.

Clinical Symptoms and Prognosis

Individuals with congenital muscular dystrophy-dystroglycanopathy type A10 typically experience severe symptoms, including muscle weakness, brain and eye anomalies, and profound mental retardation. The condition is usually fatal in the first years of life.

References:

• [5] Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14 ...
• [10] A number sign (#) is used with this entry because this form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A10; MDDGA10) is caused by homozygous or compound heterozygous mutation in the TMEM5 gene (RXYLT1; 605862), which encodes a transmembrane protein believed to have glycosyltransferase function, on chromosome 12q14.
• [9] A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has material ...

Early Infancy Signs

Infants born with congenital muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) typically exhibit weak muscle tone, which can make them appear "floppy" [10]. This is often accompanied by a weak cry and difficulty feeding [3].

Progressive Muscle Weakness

As the condition progresses, children with MDDGA10 may experience slowly progressive weakness of pelvic and shoulder girdle muscles, leading to a waddling gait and scapular winging [9]. They may also exhibit calf and tongue hypertrophy.

Brain and Eye Anomalies

MDDGA10 is characterized by brain and eye malformations, which can lead to

Based on the provided context, it appears that there are various diagnostic tests available for congenital muscular dystrophy-dystroglycanopathy type A10 (MDDGA10). Here are some possible diagnostic tests mentioned:

• Clinical Molecular Genetics test: This test is specifically designed to diagnose Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7. It uses Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by PreventionGenetics, Part of Exact Sciences.
• Muscle biopsy: Evaluation of a patient's muscle biopsy by immunofluorescence can detect abnormal glycosylation of ADG and aid in a diagnostic evaluation [6].
• Genetic testing: Integrated disease information for Congenital Muscular Dystrophy-Dystroglycanopathy Type a, including associated genes, mutations, phenotypes, pathways, etc. [7].

It's worth noting that the context mentions 33 available clinical tests for this condition, and molecular genetics tests are also mentioned.

Here are some possible diagnostic approaches:

• A differential diagnosis of similar phenotypes can be aided by this test, which rules out particular syndromes and provides analysis of multiple genes [5].
• This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes [5].

References: [1] - Not applicable [2] - Not applicable [3] - Not applicable [4] - Not applicable [5] - Context mention [6] - Context mention [7] - Context mention

Treatment Options for Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Congenital muscular dystrophy-dystroglycanopathy type A10 is a rare and severe form of muscular dystrophy that affects the muscles, brain, and eyes. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Anticonvulsant medications: Treatment with anticonvulsant medications may be necessary if seizures occur [9].
• No FDA-approved drugs: Currently, there are no FDA-approved drugs specifically designed to treat congenital muscular dystrophy-dystroglycanopathy type A10 or other forms of this condition [8].

Other Therapeutic Approaches

While not specific to congenital muscular dystrophy-dystroglycanopathy type A10, the following therapeutic approaches may be considered for managing symptoms and improving quality of life:

• Physical therapy: Regular physical therapy can help maintain muscle strength and mobility.
• Occupational therapy: Occupational therapists can provide guidance on adapting daily activities to accommodate muscle weakness and other symptoms.
• Speech and language therapy: Speech and language therapists can help individuals with congenital muscular dystrophy-dystroglycanopathy type A10 manage communication challenges.

Emerging Research and Potential Therapies

Research into the causes and treatment of congenital muscular dystrophy-dystroglycanopathies is ongoing. Emerging research may lead to new therapeutic approaches, including:

• Gene therapy: Gene therapy aims to correct genetic mutations that cause this condition.
• Stem cell therapy: Stem cell therapy involves using stem cells to repair or replace damaged muscle tissue.

It's essential to note that these emerging therapies are still in the experimental stages and not yet widely available. Further research is needed to determine their safety and efficacy for treating congenital muscular dystrophy-dystroglycanopathy type A10.

References

[8] by A Rawls · 2023 · Cited by 6 — Currently, there are no FDA-approved drugs to improve myofiber repair or address inflammation and other disease etiologies in LGMD2B and MM patients. Vamorolone ...

[9] by F Aref · 2024 — ... muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A10, treatment with anticonvulsant medications may be necessary if seizures occur.

Note: The references provided are based on the search results within the context.

Differential Diagnosis of Congenital Muscular Dystrophy-Dystroglycanopathy Type A10

Congenital muscular dystrophy-dystroglycanopathy (CDD) is a rare neuromuscular disorder characterized by muscle weakness, wasting, and other systemic features. The differential diagnosis for CDD type A10 involves ruling out similar phenotypes and syndromes that may present with overlapping clinical features.

Similar Conditions to Consider:

• Spinal Muscular Atrophy (SMA): SMA is a genetic disorder affecting the nerve cells responsible for controlling voluntary muscle movement. While SMA primarily affects motor neurons, it can also lead to muscle weakness and wasting, similar to CDD.
• Congenital Myopathies: Congenital myopathies are a group of rare neuromuscular disorders characterized by muscle weakness and wasting at birth or early infancy. These conditions often present with similar clinical features as CDD.

Diagnostic Features:

To differentiate CDD type A10 from other neuromuscular disorders, the following diagnostic features should be considered:

• Muscle Biopsy: Muscle biopsy is a crucial diagnostic tool for differentiating CDD from other muscular dystrophies. The presence of specific histopathological features, such as muscle fiber degeneration and regeneration, can aid in diagnosis.
• Genetic Testing: Genetic testing for mutations in the DSG2 gene (responsible for CDD type A10) is essential for confirming the diagnosis.

References:

• [1] Congenital muscular dystrophies are extremely rare and greatly heterogeneous neuromuscular disorders with onset at birth or early infancy. [1]
• The differential diagnosis included spinal muscular atrophy and congenital myopathies. [7]
• Congenital musuclar dystrophy related to TCAP - (AR). 2.16; Congenital muscular dystrophy related to LMNA - (AD). 2.17; Muscular dystrophy-dystroglycanopathy (CDD) is a group of neuromuscular disorders that manifest at birth or infancy, characterized by hypotonia, muscle wasting, and other systemic features. [4]
• Congenital muscular dystrophy-dystroglycanopathy (CDD) is a rare neuromuscular disorder affecting the muscle and nervous system. [9]

Note: The above information is based on the search results provided in the context block.