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arthrogryposis multiplex congenita-6

ICD-10 Codes

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Description

Arthrogryposis Multiplex Congenita-6 (AMC6) Description

Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero [1, 4, 7, 8]. This condition is characterized by multiple joint contractures and muscle weakness throughout the body.

Key Features:

  • Severe autosomal recessive disorder
  • Onset of symptoms in utero
  • Multiple joint contractures
  • Muscle weakness throughout the body

Symptoms:

The pregnancies affected by AMC6 are often complicated, with symptoms becoming apparent during fetal development [7]. The condition is non-progressive, meaning that it does not worsen over time.

References:

[1] Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of

Additional Characteristics

  • Arthrogryposis multiplex congenita-6 (AMC6) is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero
  • This condition is characterized by multiple joint contractures and muscle weakness throughout the body.
  • The pregnancies affected by AMC6 are often complicated, with symptoms becoming apparent during fetal development
  • The condition is non-progressive, meaning that it does not worsen over time

Signs and Symptoms

Limited or Fixed Joint Movement

One of the key signs and symptoms of arthrogryposis multiplex congenita (AMC) is limited or fixed joint movement in the arms and legs. This can result in a range of motion that is restricted or completely eliminated, making it difficult for individuals to perform everyday activities.

  • The joints in the arms and legs may be stiff or rigid, making it hard to move them through their normal range of motion.
  • In some cases, the joints may be fixed in a particular position, such as bent or straight, which can limit movement even further.

This symptom is often present at birth and can vary in severity from person to person. It's essential for parents and caregivers to be aware of these signs and symptoms so that they can seek medical attention if necessary.

Additional Symptoms

In addition to limited or fixed joint movement, other common symptoms of AMC include:

  • Internally rotated shoulders and limbs
  • Hand contractures
  • Facial asymmetry
  • Clubfeet
  • Dislocated hips

These symptoms can vary in severity and may be present in combination with each other. It's crucial for healthcare professionals to conduct a thorough examination and evaluation to determine the extent of the condition.

Early Detection

In some cases, AMC can be detected prenatally through ultrasound imaging. This allows parents and caregivers to prepare for the birth and make necessary arrangements for medical care after delivery.

References:

  • [6] Signs and Symptoms
  • [12] Prenatal ultrasound. History and physical examination. Genetic testing. Electromyography and muscle biopsy.
  • [13] Arthrogryposis or arthrogryposis multiplex congenita (AMC) is a disorder characterized by the development of multiple joint contractures throughout the body during fetal development.

Additional Symptoms

  • Dislocated hips
  • Facial asymmetry
  • Limited or fixed joint movement
  • Internally rotated shoulders and limbs
  • Hand contractures
  • Clubfeet

Diagnostic Tests

Diagnostic Tests for Arthrogryposis Multiplex Congenita (AMC)

Arthrogryposis multiplex congenita (AMC) is a rare genetic disorder characterized by joint contractures and muscle weakness. Diagnosing AMC can be challenging, but various diagnostic tests can help confirm the condition.

Muscle Biopsy: A muscle biopsy is considered one of the most important diagnostic procedures for AMC ([5]). This test involves taking a small sample of muscle tissue from the affected area to examine under a microscope. The results can help distinguish between myopathic and neuropathic conditions ([5]).

Chromosomal Microarray Analysis: Testing typically starts with a chromosomal microarray analysis, followed by specific gene tests that are done individually or as a standard panel by many laboratories ([6], [7]).

Additional Diagnostic Tests

  • Muscle Biopsy
  • Chromosomal Microarray Analysis

Treatment

According to the available information, there are some drug treatments that can be used in conjunction with physical therapy to manage symptoms of Arthrogryposis Multiplex Congenita (AMC).

  • Acetylcholine treatment has been found to elicit a response from some patients with AMC, particularly when combined with physical therapy [2].
  • Nebulization therapy was also commenced to alleviate respiratory symptoms and support lung function in one reported case [9].

It's essential to note that while these treatments may be beneficial, there is no specific cure for AMC. The primary goal of treatment is often to improve range of motion and function at the sites of joint contractures.

Early physical therapy evaluations are also crucial in improving joint motion and avoiding muscle atrophy, as mentioned in [6]. However, it's unclear if any specific medications or treatments have been shown to be effective in treating AMC beyond what has already been mentioned.

Recommended Medications

  • Acetylcholine treatment
  • Nebulization therapy

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Based on the provided context, conditions that might be considered in a differential diagnosis for arthrogryposis multiplex congenita-6 (AMC6) include:

  • Bony fusion (symphalangism, coalition, synostosis)
  • Other non-progressive conditions characterized by multiple joint contractures and muscle weakness throughout the body.

These conditions can be associated with many different medical conditions, including AMC6. It's worth noting that arthrogryposis is not a specific diagnosis but rather a descriptive term for multiple contractures that can be associated with various underlying causes [8].

In particular, bony fusion (symphalangism, coalition, synostosis) might be considered in the differential diagnosis of AMC6 due to its similar symptoms of joint contractures and muscle weakness. However, it's essential to note that AMC6 is a severe autosomal recessive disorder of skeletal muscle with onset of symptoms in utero [3].

References: [1] - Conditions that might be considered in a differential diagnosis [8] - Arthrogryposis is not a specific diagnosis but rather is a descriptive term for multiple contractures that can be associated with many different medical conditions.

Additional Differential Diagnoses

  • Bony fusion
  • Other non-progressive conditions characterized by multiple joint contractures and muscle weakness throughout the body

Additional Information

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arthrogryposis multiplex congenita-6
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An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.