4 free views remaining today
arthrogryposis multiplex congenita
ICD-10 Codes
Related ICD-10:
Description
Arthrogryposis Multiplex Congenita (AMC) Description
Arthrogryposis multiplex congenita, commonly referred to as AMC, is a group of rare congenital disorders characterized by multiple joint contractures present at birth [5][6]. This condition affects the development of muscles and joints, leading to limited or absent movement in affected limbs [4][8].
Key Features
- Multiple joint contractures affecting two or more areas of the body prior to birth [3]
- Limited ability to move small and large joints due to contractures [4][8]
- Underdeveloped muscles (hypoplastic muscles) with decreased strength and bulk [4][8]
- Soft, tubular skin on affected limbs [4]
Causes and Effects
The exact cause of AMC is unknown, but it is believed to be related to genetic factors or environmental influences during fetal development [7]. AMC can have a significant impact on an individual's quality of life, affecting their mobility, independence, and overall well-being.
References
[3] - Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. [4] - A limited ability to move small and large joints. · An inability to move small and large joints. · Underdeveloped muscles (hypoplastic muscles). · Soft, tube-... [5] - Arthrogryposis multiplex congenita refers to a group of rare congenital disorders characterized by multiple joint contractures present at birth. [6] - Arthrogryposis multiplex congenita refers to a group of rare congenital disorders characterized by multiple joint contractures present at birth. [7] - by H Sucuoglu · 2015 · Cited by 18 — Arthrogryposis multiplex congenita (AMC) is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is... [8] - Decreased or absent movement around small and large joints due to contractures · Muscles of affected limbs are underdeveloped with decreased strength and bulk...
Additional Characteristics
- Multiple joint contractures affecting two or more areas of the body prior to birth
- Limited ability to move small and large joints due to contractures
- Underdeveloped muscles (hypoplastic muscles) with decreased strength and bulk
- Soft, tubular skin on affected limbs
Signs and Symptoms
Symptoms of Arthrogryposis Multiplex Congenita (AMC)
Arthrogryposis multiplex congenita (AMC) is a rare genetic disorder characterized by multiple joint contractures and muscle weakness. The symptoms of AMC can vary greatly from person to person, but here are some common signs and symptoms:
- Contractures: People with AMC have limited joint movement, with or without muscle weakness, in the body areas involved [1].
- Muscle Weakness: Muscle contractures of joints commonly take place, leading to muscle weakness and stiffness [2].
- Stiff Joints: Stiff joints due to extra tissue (fibrosis or fibrous ankylosis) are a common symptom of AMC [3].
- Multiple Joint Involvement: The most severe cases can affect almost every joint, including the back and jaw [4].
- Non-Progressive Condition: AMC is not a progressive condition, meaning that it does not worsen over time [9].
Other Symptoms
Some people with AMC may also experience:
- Clubfeet
- Dislocated hips
- Facial asymmetry
- Facial birthmarks
- Hand contractures
- Internally rotated shoulders and limbs
- Intestine, kidney, bladder, and other internal organ problems
Age of Onset
Symptoms of AMC can start to appear at birth or may begin later in life. The age symptoms may begin to appear differs between diseases [7].
It's essential to note that the severity and type of symptoms can vary greatly from person to person with AMC.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 6 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9
Additional Symptoms
- Dislocated hips
- Contractures
- Facial asymmetry
- Internally rotated shoulders and limbs
- Hand contractures
- Clubfeet
- Stiff Joints
- Multiple Joint Involvement
- Facial birthmarks
- Intestine, kidney, bladder, and other internal organ problems
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Arthrogryposis Multiplex Congenita (AMC)
Arthrogryposis multiplex congenita (AMC) is a complex condition that requires a comprehensive diagnostic approach. The following tests are commonly used to diagnose and evaluate AMC:
- Muscle biopsy: This is considered the most important diagnostic procedure for AMC ([5]). It helps distinguish between myopathic and neuropathic conditions.
- Chromosomal microarray analysis: This test is typically the first step in evaluating AMC, followed by specific gene tests that are done individually or as a standard panel ([6]).
- Nerve conduction studies: These tests can help assess nerve function and identify any abnormalities ([3]).
- Imaging studies: X-rays, CT scans, and MRI scans may be used to evaluate joint contractures, clubfeet, and scoliosis ([8], [9]).
- Blood work: Genetic testing is typically performed as part of the diagnostic evaluation for AMC ([7], [9]).
Additional Diagnostic Considerations
A thorough clinical examination by an orthopedic provider, including a physical exam and imaging studies, is essential for diagnosing AMC. Associated physical, chromosomal, and genetic abnormalities should also be evaluated as part of the diagnostic process ([7]).
Additional Diagnostic Tests
- Imaging studies
- Muscle biopsy
- Blood work
- Nerve conduction studies
- Chromosomal microarray analysis
Treatment
Treatment Options for Arthrogryposis Multiplex Congenita
While there is no specific cure for arthrogryposis, various treatment approaches can help manage the condition and improve quality of life. One such approach is drug treatment.
- Acetylcholine treatment: According to search result [2], acetylcholine treatment, combined with physical therapy, has been found to elicit a response in some cases of pterygium syndromes associated with arthrogryposis.
- Nebulization therapy: Search result [9] mentions that nebulization therapy was commenced to alleviate respiratory symptoms and support lung function in patients with arthrogryposis multiplex congenita.
It's essential to note that these treatment options may vary depending on the individual case, severity of the condition, and other factors. A comprehensive treatment plan, often involving a multidisciplinary team of healthcare professionals, is usually recommended.
Other Treatment Approaches
In addition to drug treatment, other approaches can be used to manage arthrogryposis:
- Physical therapy: Early and vigorous physical therapy is crucial in improving joint motion and preventing muscle atrophy (search result [6]).
- Surgical interventions: While not a cure, surgical methods can help improve range of motion and function at affected joints (search results [3], [4], and [8]).
- Occupational therapy: Rehabilitation through occupational therapy can also be beneficial in improving functional abilities and quality of life (search result [5]).
It's essential to consult with a healthcare professional for personalized advice on managing arthrogryposis multiplex congenita.
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
Differential Diagnosis of Arthrogryposis Multiplex Congenita (AMC)
Arthrogryposis multiplex congenita (AMC) is a nonprogressive condition characterized by multiple joint contractures. When diagnosing AMC, it's essential to consider various conditions that might present with similar symptoms. Here are some of the differential diagnoses for AMC:
- Bony fusion: Conditions such as symphalangism, coalition, and synostosis can cause joint stiffness and limited mobility.
- Amyoplasia: A type of distal arthrogryposis characterized by multiple joint contractures and muscle weakness.
- Distal arthrogryposis: A subtype of AMC that affects the hands and feet, causing joint contractures and limited mobility.
- Generalized connective tissue disorder: Conditions such as Ehlers-Danlos syndrome can cause joint laxity and skin hyperextensibility.
- Fetal akinesia: Decreased fetal movement in utero has been linked to AMC, suggesting that intrauterine factors may contribute to the development of this condition.
According to a study by Kalampokas et al. [2], the primary diagnosis of AMC is made when a lack of mobility and an abnormal position are noted in routine ultrasound scanning. These findings should guide further evaluation and differential diagnosis.
A review by Rac et al. [9] notes that the differential diagnosis of arthrogryposis is extensive, with more than 400 conditions characterized by this finding. The features of these conditions can overlap with those of AMC, making accurate diagnosis challenging.
In summary, when considering a diagnosis of AMC, it's crucial to rule out other conditions that may present with similar symptoms. A comprehensive evaluation and differential diagnosis are essential for accurate diagnosis and treatment planning.
References:
[2] Kalampokas et al. (2012) - Cited by 115 [9] Rac et al. (2019) - Cited by 12
Additional Differential Diagnoses
- Amyoplasia
- Bony fusion
- Generalized connective tissue disorder
- Fetal akinesia
- distal arthrogryposis
- ARC syndrome
- lethal congenital contracture syndrome 2
- lethal congenital contracture syndrome 4
- Miles-Carpenter syndrome
- arthrogryposis multiplex congenita-1
- congenital limbs-face contractures-hypotonia-developmental delay syndrome
- distal arthrogryposis type 1C
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0080954
- core#notation
- DOID:0080954
- oboInOwl#hasDbXref
- MIM:PS617468
- IAO_0000115
- A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.
- rdf-schema#label
- arthrogryposis multiplex congenita
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0090124
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- RO_0004019
- http://purl.obolibrary.org/obo/HP_0001197
- relatedICD
- http://example.org/icd10/Q74.3
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_3273
- owl#annotatedSource
- t357409
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
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.