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distal arthrogryposis
ICD-10 Codes
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Description
Distal Arthrogryposis Description
Distal arthrogryposis (DA) is a rare genetic disorder characterized by joint deformities, specifically contractures that restrict movement in the hands and feet. This condition is often classified under the broader term of Arthrogryposis multiplex contractures.
The distal joints, which are the more peripheral parts of the limbs, are primarily affected in DA. The condition can result from genetic mutations and may involve extensive hand and foot involvement. In some cases, DA can be part of a larger syndrome that affects multiple areas of the body.
Key Features:
- Joint deformities (contractures) in the hands and feet
- Restricted movement due to contractures
- Primarily affects distal joints (hands and feet)
- Can result from genetic mutations
- May involve extensive hand and foot involvement
References:
- [1] Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. ([8])
- Distal arthrogryposis syndromes involve the more peripheral joints (i.e.-Type I) and can have more extensive hand and feet involvement. ([3])
- A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disorder. ([4])
Additional Characteristics
- Joint deformities (contractures) in the hands and feet
- Restricted movement due to contractures
- Primarily affects distal joints (hands and feet)
- Can result from genetic mutations
- May involve extensive hand and foot involvement
Signs and Symptoms
Characteristics of Distal Arthrogryposis
Distal arthrogryposis, also known as Type II Arthrogryposis, is a condition characterized by contractures in the hands and feet. This condition typically results from genetic mutations.
- Contractures: The most common feature of distal arthrogryposis is the presence of contractures in the hands and feet [3].
- Limited Joint Mobility: The range of motion of the joints in the arms and legs may be limited or fixed, making it difficult to move the affected limbs [5].
- Muscle Weakness: Thin, weak (atrophied), stiff or missing muscles are common symptoms of distal arthrogryposis [2].
Additional Features
Other features associated with distal arthrogryposis include:
- Camptodactyly and Clubfoot: These conditions are often present in individuals with distal arthrogryposis [6].
- Hypoplasia and/or Absence of Interphalangeal Creases: The interphalangeal creases may be absent or hypoplastic, adding to the characteristic features of this condition [6].
References
[1] Not applicable (this information is not present in the search results)
[2] Context #2
[3] Context #3
[5] Context #5
[6] Context #6
Additional Symptoms
- Contractures
- Limited Joint Mobility
- Camptodactyly and Clubfoot
- or Absence of Interphalangeal Creases
- muscle weakness
Diagnostic Tests
Diagnostic Tests for Distal Arthrogryposis
Distal arthrogryposis (DA) is a rare genetic disorder characterized by joint contractures and muscle weakness in the hands and feet. Diagnosing DA can be challenging, but several diagnostic tests can help confirm the condition.
- Ultrasound scans: Ultrasound scans are often used to detect abnormalities in the muscles and joints of individuals with DA. According to [10], ultrasound scan findings such as fixed flexion deformities, micrognathia, altered amniotic fluid volume, limb deformities, and cerebral anomalies can be indicative of DA.
- Genetic testing: Genetic testing is a crucial diagnostic tool for DA. A specific genetic test, which involves the analysis of genes tested in [11], can confirm the diagnosis of distal arthrogryposis (DA). This test should not be ordered for the diagnosis of amyoplasia.
- Muscle biopsies: Muscle biopsies are frequently performed
Additional Diagnostic Tests
- Genetic testing
- Ultrasound scans
- Muscle biopsies
Treatment
Treatment Options for Distal Arthrogryposis
Distal arthrogryposis, a type of congenital joint contracture disorder, can be challenging to treat. However, various treatment options are available to manage the condition and improve range of motion.
- Physical Therapy: Physical therapy is often recommended as a first-line treatment for distal arthrogryposis. It involves exercises and stretches to improve joint mobility and prevent muscle atrophy [1].
- Casting and Bracing: Casting and bracing can be used to stabilize joints and improve range of motion. Splints are made to increase stretching exercises and increase the range of motion, while casting is frequently done to improve joint alignment [9].
- Acetylcholine Treatment: In some cases, acetylcholine treatment, together with physical therapy, may elicit a response from patients with distal arthrogryposis [3].
Other Considerations
While there is no cure for distal arthrogryposis, quality of life can be greatly improved depending on the severity of the condition. Family counseling and adaptive equipment evaluation may also be necessary to support individuals with this condition [8].
It's essential to note that treatment plans should be tailored to individual needs and may involve a multidisciplinary approach.
References
[1] Patients with amyoplasia or distal arthrogryposis respond well to physical therapy, with excellent functional outcome. However, physical therapy... (Search Result 1)
[3] Acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes. (Search Result 3)
[8] What is the treatment for arthrogryposis? · Physical and occupational therapy · Bracing · Casting · Family counseling · Adaptive equipment evaluation. (Search Result 8)
[9] Treatment Options · Splints – Splints are made to increase the stretching exercises and increase the range of motion. Casting is frequently done to improve the... (Search Result 9)
Recommended Medications
- Acetylcholine treatment
💊 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 Distal Arthrogryposis
Distal arthrogryposis (DA) is a rare congenital disorder characterized by joint contractures and deformities in the hands, feet, and other peripheral joints. When diagnosing DA, it's essential to consider several differential diagnoses that can present similar symptoms.
Key Differential Diagnoses:
- Amyoplasia: A common form of arthrogryposis multiplex congenita (AMC) that presents distinct symptoms, including joint contractures and deformities in the hands, feet, and other joints [4].
- Contractural Arachnodactyly (Beals Syndrome): A rare genetic disorder characterized by joint contractures, long limbs, and characteristic hand and foot features [5].
- Multiple Pterygium Syndromes: A group of rare congenital disorders characterized by skin webbing and joint contractures in the hands and feet [5].
Other Conditions to Consider:
- Bony Fusion (Symphalangism, Coalition, Synostosis): Abnormalities in bone formation that can lead to joint fusion and deformity [5].
- Generalized Fetal Akinesia: A condition characterized by reduced fetal movement, which can lead to polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord [9].
Important Considerations:
When diagnosing distal arthrogryposis, it's crucial to establish a differential diagnosis by considering the child's neurological function. A normal neurological examination can help rule out other conditions that may present similar symptoms [2]. Additionally, the principal differential diagnosis includes DA (in particular DA2B), congenital amyoplasia, and situations with limitation of fetal joint movement [3].
References:
[1] Jul 11, 2024 — Adducted thumbs. Bowen-Conradi syndrome. C syndrome. Syndrome of cloudy cornea, diaphragmatic defects, and distal limb deformities. [2] by M Bamshad · 2009 · Cited by 452 — To establish a differential diagnosis, it is important to first decide whether a child has normal neurological function. A normal neurological examination ... [3] The principal differential diagnosis includes a different type of DA (in particular DA2B), congenital amyoplasia and situations with limitation of fetal joint ... [4] The two main forms of AMC are amyoplasia and distal arthrogryposis (DA), each presenting distinct symptoms: Amyoplasia: The most common form of AMC ... [5] Differential Diagnosis[edit | edit source] · bony fusion (symphalangism, coalition, synostosis) · contractural arachnodactyly (Beals syndrome) · multiple pterygium ... [6] Arthrogryposis multiplex congenita refers to a group of rare congenital disorders characterized by multiple joint contractures present at birth. [7] Distal arthrogryposis syndromes involve the more peripheral joints (i.e.-Type I) and can have more extensive hand and feet involvement. [8] by MWF Rac · 2019 · Cited by 12 — The differential diagnosis of arthrogryposis is extensive. More than 400 conditions are characterized by this finding, and the features and severity can vary ... [9] Jul 11, 2024 — Generalized fetal
Additional Differential Diagnoses
- lethal congenital contracture syndrome
- lethal congenital contracture syndrome 1
- lethal congenital contracture syndrome 2
- lethal congenital contracture syndrome 4
- arthrogryposis multiplex congenita
- arthrogryposis multiplex congenita-1
- contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
- obsolete arthrogryposis due to muscular dystrophy
- Generalized Fetal Akinesia
- congenital contractural arachnodactyly
- Amyoplasia
- Multiple Pterygium Syndromes
- Bony Fusion (Symphalangism, Coalition, Synostosis)
Additional Information
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