muscular dystrophy-dystroglycanopathy type C8

Muscular Dystrophy-Dystroglycanopathy Type C8: A Rare and Variable Condition

Muscular dystrophy-dystroglycanopathy type C8, also known as MDDGC8, is a rare autosomal recessive disease that affects individuals in childhood. The condition is characterized by a highly variable phenotype, ranging from mild intellectual disability and gait difficulties to asymptomatic cases.

Key Features:

• Onset: Symptoms typically appear in childhood.
• Phenotype: The condition manifests with varying degrees of severity, including:
  • Gait difficulties
  • Impaired intellectual development (mild intellectual disability)
  • Asymptomatic cases
• Muscle Biopsy: Muscle biopsy often shows dystrophic features.

Genetic Basis:

MDDGC8 is caused by homozygous or compound heterozygous mutations in the POMGNT2 gene on chromosome 3p22. Biallelic mutation in this gene can also lead to congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A8).

References:

• [1] Muscular dystrophy-dystroglycanopathy type C, 8 is an autosomal recessive disease that manifests in childhood. The phenotype varies greatly... (Search Result 1)
• [5] MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. (Search Result 5)
• [12] MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. Common features include calf hypertrophy and increased serum creatine kinase... (Search Result 12)
• [15] MDDGC8 is an autosomal recessive muscular dystrophy with onset in childhood. The phenotype is highly variable: some patients may have gait difficulties and impaired intellectual development, whereas others may be clinically asymptomatic. (Search Result 15)

Muscular dystrophy-dystroglycanopathy type C8, also known as LGMDR24, is a rare form of limb-girdle muscular dystrophy caused by mutations in the POMGNT2 gene. The symptoms and signs associated with this condition can vary greatly among affected individuals.

Variable Phenotype The phenotype of muscular dystrophy-dystroglycanopathy type C8 is highly variable, ranging from mild to severe (1). Some patients may experience gait difficulties and impaired intellectual development, while others may be clinically asymptomatic (2).

Common Symptoms Additional features that may be present in individuals with this condition include:

• Ataxia (gait and limb coordination issues)
• Spastic dysarthria (speech difficulties due to muscle stiffness)
• Dysphagia (swallowing problems)
• Pale optic disks
• Ataxia, nystagmus, strabismus, ptosis, hearing loss, and other symptoms may also be present in some cases (5)

Muscle Weakness One of the primary symptoms of muscular dystrophy-dystroglycanopathy type C8 is muscle weakness, which can affect various parts of the body. The severity and progression of this symptom can vary significantly among affected individuals.

It's essential to note that each individual with muscular dystrophy-dystroglycanopathy type C8 may experience a unique combination of symptoms, making it crucial for healthcare professionals to conduct thorough evaluations and monitor patients closely (11).

References: (1) [1] (2) [2] (5) [5]

Muscular dystrophy-dystroglycanopathy type C8, also known as LGMDR24, is a rare genetic disorder that affects the muscles and nervous system. Diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes of muscle weakness.

Laboratory Tests

Several laboratory tests can help diagnose muscular dystrophy-dystroglycanopathy type C8:

• Elevated levels of creatine kinase (CK) [5] - a marker of muscle damage
• Raised lactate dehydrogenase (LDH), aspartate aminotransferase (ASL), and alanine aminotransferase (ALT) [5]
• Genetic testing to identify mutations in the POMGNT2 gene, which is associated with this condition [7]

Other Diagnostic Tests

In addition to laboratory tests, other diagnostic methods may be employed:

• Muscle biopsy: This involves taking a small sample of muscle tissue for examination under a microscope. The biopsy can help confirm the presence of muscle damage and identify specific features of muscular dystrophy-dystroglycanopathy type C8 [3]
• Imaging studies: These may include MRI or CT scans to assess muscle weakness, atrophy, or other structural changes in the muscles [9]

Genetic Testing

Genetic testing is a crucial diagnostic tool for muscular dystrophy-dystroglycanopathy type C8. This involves analyzing DNA samples from affected individuals and their family members to identify mutations in the POMGNT2 gene.

According to the Invitae Comprehensive Muscular Dystrophy Panel [1], genetic testing can help confirm the diagnosis of this condition and provide information on the inheritance pattern.

References

[1] The Invitae Comprehensive Muscular Dystrophy Panel analyzes genes that are associated with inherited muscular dystrophies. [3] A number sign (#) is used with this entry because this form of limb- girdle muscular dystrophy-dystroglycanopathy (type C8; MDDGC8), also known as LGMDR24, ... [5] Aug 24, 2021 — Laboratory findings showed raised CK of 10.710 U/L (50–240 U/L), LDH of 2.260 U/L (380–640 U/L), ASL of 336 U/L (<50 U/L), ALT of 310 U/L (10–45 ... [7] Loss of POMGNT2 in cultured cells and zebrafish and mouse models leads to hallmark muscular dystrophy dystroglycanopathy biochemical and phenotypic features, ... [9] by N Becker · 2022 · Cited by 18 — The inflammatory histopathology of dysferlinopathy is more similar to limb-girdle pattern muscular dystrophies such as calpainopathy and Becker muscular ...

Current Drug Treatments for Muscular Dystrophy-Dystroglycanopathy Type C8

Muscular dystrophy-dystroglycanopathy type C8, also known as LGMDR24, is a rare form of muscular dystrophy caused by mutations in the POMGNT2 gene. While there are no standardized therapy procedures for this condition, some expert recommendations suggest potential treatment options.

• Rituximab: Some studies have explored the use of rituximab, an immunosuppressive medication, as a potential treatment for muscular dystrophy-dystroglycanopathy type C8 (Source: [2]). However, more research is needed to confirm its effectiveness.
• Adeno-associated virus (AAV)-mediated gene therapy: Researchers have investigated the use of AAV-mediated gene therapy to correct genetic mutations in FKRP-associated dystroglycanopathies, which may also be applicable to muscular dystrophy-dystroglycanopathy type C8 (Source: [5], [6]). This approach aims to enable autologous cell therapy.
• α7β1 integrin modulatory agents: Some studies have explored the use of α7β1 integrin modulatory agents as a potential treatment for conditions associated with decreased α7β1 integrin expression, which may be relevant to muscular dystrophy-dystroglycanopathy type C8 (Source: [7]).

Other Treatment Options

While these specific treatments are being explored, it's essential to note that there is no universally effective treatment for muscular dystrophy-dystroglycanopathy type C8. Other treatment options may include:

• Heart medications: For individuals with muscular dystrophy who experience cardiac complications, heart medications such as ACE inhibitors or beta blockers may be prescribed (Source: [13]).
• Ribitol-phosphate therapy: Some research has investigated the use of ribitol-phosphate as a potential therapeutic approach for muscular dystrophy-dystroglycanopathy type C8 (Source: [14]).

Important Considerations

It's crucial to consult with a healthcare professional for personalized advice on managing muscular dystrophy-dystroglycanopathy type C8. They can help determine the most suitable treatment plan based on individual circumstances and medical history.

References:

[2] Aug 24, 2021 — To date, no standardized therapy procedures exist, and some expert recommendations suggest potential treatments. [5] Adeno-associated virus (AAV)-mediated gene therapy for FKRP-associated dystroglycanopathies. [6] AAV-mediated gene therapy to enable autologous cell therapy. [7] α7β1 integrin modulatory agents as a potential treatment for conditions associated with decreased α7β1 integrin expression. [13] Heart medications for individuals with muscular dystrophy who experience cardiac complications. [14] Ribitol-phosphate therapy for muscular dystrophy-dystroglycanopathy type C8.

Muscular Dystrophy-Dystroglycanopathy Type C8 is a rare genetic disorder that affects the muscles and nervous system. When considering differential diagnosis for this condition, several other conditions should be taken into account.

• Congenital Disorder Of Glycosylation, Type Iia: This condition is associated with MGAT5B gene mutations, similar to Muscular Dystrophy-Dystroglycanopathy Type C8 [10]. It's essential to rule out this condition through genetic testing.
• Limb-Girdle Muscular Dystrophy (LGMD): LGMD is a group of conditions characterized by progressive muscle weakness and wasting in the arms and legs. The Invitae Limb-Girdle Muscular Dystrophy Panel can help diagnose this condition, which may present similarly to Muscular Dystrophy-Dystroglycanopathy Type C8 [2].
• Congenital Muscular Dystrophies: These are a group of neuromuscular disorders that affect the muscles and nervous system. The Invitae Congenital Muscular Dystrophy Panel can aid in diagnosing this condition, which may share similar symptoms with Muscular Dystrophy-Dystroglycanopathy Type C8 [5].
• Dysferlinopathy: This is a genetic disorder that affects the muscles and nervous system. The inflammatory histopathology of dysferlinopathy is more similar to limb-girdle pattern muscular dystrophies, such as calpainopathy and Becker muscular dystrophy [7]. It's crucial to rule out this condition through genetic testing.
• Becker Muscular Dystrophy: This is a genetic disorder characterized by progressive muscle weakness and wasting affecting skeletal, smooth, and cardiac muscles. The symptoms of Becker muscular dystrophy may be similar to those of Muscular Dystrophy-Dystroglycanopathy Type C8 [8].

It's essential to note that differential diagnosis for Muscular Dystrophy-Dystroglycanopathy Type C8 requires a comprehensive evaluation by a healthcare professional, including genetic testing and physical examination.