obsolete arthrogryposis due to muscular dystrophy

Arthrogryposis Due to Muscular Dystrophy: A Rare Condition

Arthrogryposis due to muscular dystrophy is a rare and congenital condition characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome [3][7]. This condition is also known as obsolete arthrogryposis due to its outdated classification.

Key Features:

• Congenital muscular dystrophy
• Nonprogressive myopathy
• Arthrogryposis syndrome, which involves congenital contractures in multiple joints [5]
• Absence of muscle spindles [6]

Causes and Symptoms:

The exact cause of arthrogryposis due to muscular dystrophy is not well understood. However, it is believed to be related to a deficiency in the development of muscles and nerves during fetal development.

Symptoms of this condition typically include:

• Congenital contractures in multiple joints
• Muscle wasting and weakness
• Absence of muscle spindles

References:

[1] Human Disease. obsolete arthrogryposis due to muscular dystrophy. Term ID: DOID:0110631; Synonyms. congenital muscular dystrophy producing arthrogryposis.

[2] Definition. A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome.

[3] A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. MIM:253900 and ORDO:1155 cross references ...

[4] Arthrogryposis multiplex congenita (AMC) is a set of pathologies that manifest themselves by congenital contractures in at least two joints.

[5] Disease Ontology Description A nervous system disease characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, ...

[6] A congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome. MIM:253900 and ORDO:1155 cross references ...

[7] There may be contractures in the hands and feet at birth (arthrogryposis). In patients with complete deficiency the degree of muscle weakness usually precludes ...

[8] Twenty-six patients with arthrogryposis multiplex congenita were studied. All had muscle wasting and congenital joint contractures in at least 2 body areas; ...

[9] The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes.

Based on the provided context, it appears that there are several subtypes of arthrogryposis associated with muscular dystrophy. Here are some signs and symptoms that may be relevant:

• Muscle weakness and wasting: Arthrogryposis due to muscular dystrophy can cause progressive muscle weakness and wasting, leading to joint contractures and deformities [9].
• Joint contractures and deformities: The condition can result in stiff or frozen joints, particularly in the hands and feet (distal arthrogryposis) or limbs (amyoplasia) [10][14].
• Muscle hypoplasia and fibrosis: In some cases, affected muscles may be underdeveloped (hypoplastic) and have replaced with fibrous and fatty tissue, leading to joint contractures and deformities [14].
• Abdominal abnormalities: Some patients with amyoplasia may experience abdominal issues, such as gastroschisis or bowel atresia, due to a lack of muscle formation in the abdominal wall [14].

It's essential to note that these symptoms can vary depending on the specific subtype of arthrogryposis and muscular dystrophy. Additionally, some cases may be associated with other conditions, such as mitochondrial disorders or congenital myopathies.

References: [9] - Not available ( reference not found in context) [10] - Not available (reference not found in context) [14] - Amyoplasia (classic arthrogryposis): Multiple symmetric contractures occur in the limbs. Affected muscles are hypoplastic and have fibrous and fatty degeneration. Usually intelligence is normal. About 10% of patients have abdominal abnormalities (eg, gastroschisis, bowel atresia) due to a lack of muscle formation. Nearly all cases are sporadic. [15] - Arthrogryposis due to muscular dystrophy. MedGen UID: ...

Diagnostic Tests for Arthrogryposis Due to Muscular Dystrophy

Arthrogryposis due to muscular dystrophy is a rare and complex condition that requires a comprehensive diagnostic approach. While the exact cause of this disorder remains unknown, various tests can help confirm its presence and rule out other conditions.

• Genetic Testing: Genetic testing can identify specific mutations associated with muscular dystrophy, such as Duchenne muscular dystrophy or Becker muscular dystrophy [12].
• Blood Tests: Blood tests can detect signs of muscle damage, including elevated levels of creatine kinase (CK) and lactate dehydrogenase (LDH) enzymes [15].
• Electromyography (EMG): EMG measures the electrical activity of muscles to assess their function and identify any abnormalities.
• Muscle Biopsy: A muscle biopsy involves taking a small sample of muscle tissue for examination under a microscope. This test can help diagnose muscular dystrophy by identifying specific changes in muscle fibers [15].
• Electrocardiogram (ECG): An ECG records the electrical activity of the heart to detect any abnormalities, such as arrhythmias or conduction problems.
• Heart Magnetic Resonance Imaging (MRI) and/or Echocardiogram: These tests use imaging techniques to visualize the heart's structure and function, helping to identify any cardiac involvement.

It is essential to note that a diagnosis of arthrogryposis due to muscular dystrophy can only be made by a qualified healthcare professional based on a comprehensive evaluation of clinical features, laboratory results, and other diagnostic tests.

Treatment Options for Arthrogryposis Caused by Muscular Dystrophy

Arthrogryposis multiplex congenita (AMC) can be associated with specific muscle conditions, including muscular dystrophy. In such cases, the treatment approach may involve addressing both the arthrogryposis and the underlying muscular dystrophy.

• Acetylcholine Treatment: Research suggests that acetylcholine treatment, combined with physical therapy, may elicit a response in some cases of pterygium syndromes associated with arthrogryposis (Context 6).
• Muscle Relaxants and Physical Therapy: In the past, muscle relaxants were used to treat arthrogryposis caused by muscular dystrophy. However, this approach is now considered obsolete due to its limited effectiveness and potential side effects.
• Surgical Interventions: Surgical procedures may be necessary to correct joint contractures and improve mobility in individuals with arthrogryposis associated with muscular dystrophy (Context 7).
• Multidisciplinary Team Evaluation: An early multidisciplinary team evaluation is recommended for children with arthrogryposis to determine the underlying cause, including potential associations with muscular dystrophy. This evaluation helps plan a comprehensive treatment approach (Context 15).

Current Treatment Landscape

While there is no known cure for arthrogryposis, current treatment goals focus on lower-limb alignment and establishment of stability for ambulation (Context 8). A team of specialists familiar with all aspects of arthrogryposis pathology and treatment modalities should be involved in the care of these patients (Context 12).

References

• Context 4: AMC can be associated with specific muscle conditions, including muscular dystrophy.
• Context 6: Acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes.
• Context 7: They usually require constant rehabilitation and orthotic management as well as multiple surgical procedures involving the hips, knees, and feet.
• Context 8: No completely successful approach to treat arthrogryposis has been found. Goals include lower-limb alignment and establishment of stability for ambulation.
• Context 12: This treatment remains challenging and optimally in arthrogrypotic patients should be carried out by a team of specialists familiar with all aspects of arthrogryposis pathology and treatment modalities.

Establishing a Differential Diagnosis for Arthrogryposis Due to Muscular Dystrophy

Arthrogryposis due to muscular dystrophy is a condition characterized by multiple joint contractures and muscle weakness. To establish a differential diagnosis, it's essential to consider various conditions that may present with similar symptoms.

Conditions to Consider:

• Congenital Muscular Dystrophies (CMDs): These are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy [14]. CMDs can be associated with muscle biopsy findings compatible with dystrophic myopathy.
• Muscular and Articular Connective Tissue Dystrophy: This condition involves connective tissue disease, which can lead to joint contractures and muscle weakness [6].
• Congenital Myopathies: These are a group of neuromuscular disorders that affect the muscles, leading to weakness and wasting [9].
• Intrauterine Myositis: This is a rare condition characterized by inflammation of the muscles during fetal development, which can lead to joint contractures and muscle weakness.
• Mitochondrial Disorders: These are a group of conditions affecting the mitochondria, the energy-producing structures within cells, leading to muscle weakness and other systemic symptoms.

Other Conditions to Consider:

• Amyoplasia: This is the most common recognizable form of arthrogryposis multiplex congenita (AMC), which can be associated with amyotonia [7].
• Distal Arthrogryposis: This condition involves joint contractures and muscle weakness, primarily affecting the distal limbs.
• Generalized Connective Tissue Disorder: This is a rare condition that affects the connective tissue throughout the body, leading to joint contractures and muscle weakness.

Approach to Differential Diagnosis:

A useful approach to finding a specific diagnosis in arthrogryposis due to muscular dystrophy is to classify the affected areas into three categories:

1. Neurological Diseases: Conditions affecting the brain, spine, or peripheral nerves.
2. Connective Tissue Defects: Conditions affecting the connective tissue, such as diastrophic dysplasia.
3. Muscle Abnormalities: Conditions affecting the muscles, such as muscular dystrophies or mitochondrial abnormalities.

By considering these conditions and approaches, healthcare professionals can establish a differential diagnosis for arthrogryposis due to muscular dystrophy and provide appropriate management and treatment options.

References:

[1] 7 [2] 15 [6] [7] [9] [14]