distal arthrogryposis type 10

Distal Arthrogryposis Type 10 (DA10) Description

Distal Arthrogryposis Type 10, also known as congenital plantar contractures or DA10, is a rare genetic syndrome characterized by plantar flexion contractures. This condition typically presents with toe-walking in infancy and can be variably associated with milder contractures of the hip, elbow, wrist, and finger joints.

Key Features:

• Plantar flexion contractures leading to toe-walking in infancy
• Milder contractures of the hip, elbow, wrist, and finger joints (variable)
• No ocular or neurological abnormalities
• Serum creatine phosphokinase levels are normal

Genetic Basis: Distal Arthrogryposis Type 10 is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary, occurring randomly when cells are dividing, or resulting from contracted viruses and environmental factors.

Classification: DA10 is classified as a type of Distal Arthrogryposis, which is further categorized into different types based on clinical features and genetic heterogeneity.

References:

• [1] A rare genetic distal arthrogryposis syndrome with characteristics of plantar flexion contractures typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
• [3] To date, more than ten different types of Distal Arthrogryposis have been identified, including DA10.
• [13] Distal arthrogryposis type 10 (DA10) is a rare genetic disease distinguished from the other arthrogryposis types by plantar flexion contractures resulting in toe-walking during infancy as well as variability in contractures of the hip, hamstring, elbow, wrist and finger joints with no ocular or neurological abnormalities.

Common Signs and Symptoms of Distal Arthrogryposis Type 10

Distal arthrogryposis type 10, also known as congenital plantar syndrome (DA10), is a rare genetic disorder characterized by contractures in the feet. The signs and symptoms of DA10 can vary from person to person, but some common characteristics include:

• Plantar flexion contractures: This is the most distinctive feature of DA10, where the foot is bent downward and cannot be straightened.
• Toe-walking: Many individuals with DA10 exhibit toe-walking in infancy, which is a result of the plantar flexion contracture.
• Milder contractures in other joints: In some cases, DA10 can also affect the hip, elbow, wrist, and finger joints, although these contractures are typically milder than those found in the feet.

Other Key Features

• No ocular or neurological abnormalities: Unlike some other forms of arthrogryposis, DA10 is not associated with any eye or nervous system problems.
• Normal serum creatine phosphokinase levels: This suggests that there is no muscle damage or inflammation related to the condition.

Variability in Symptoms

It's essential to note that the signs and symptoms of DA10 can vary significantly from person to person, even within the same family. Some individuals may experience more severe contractures than others, while some may have milder symptoms.

References:

• [9] Distal arthrogryposis type 10 (congenital plantar syndrome,. DA10) is a rare genetic disease characterized by plantar flexion contractures, ...
• [12] A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints.
• [13] Symptoms of Arthrogryposis The particular joint contractures found in an infant with arthrogryposis vary from child to child, but there are several common characteristics: The legs and arms are affected, with wrists and ankles being the most deformed (think of the fetus folded up inside the uterus, then locked in that position)

Diagnostic Tests for Distal Arthrogryposis Type 10

Distal arthrogryposis type 10 (DA10) is a rare genetic disorder characterized by congenital contractures of the hands and feet. Diagnosing DA10 can be challenging, but various diagnostic tests can help confirm the condition.

Diagnostic Criteria

The major diagnostic criteria for DA10 include:

• Congenital plantar flexion contracture
• Limited passive extension of the fingers or toes
• Absence or hypoplasia of the distal phalanges

These criteria are used to make a diagnosis of DA10, and they can be confirmed through various diagnostic tests.

Diagnostic Tests

The following diagnostic tests may be used to diagnose DA10:

• Physical examination: A thorough physical examination by an experienced healthcare provider is essential in diagnosing DA10. The examination should include assessment of the range of motion in the hands and feet.
• Imaging studies: Imaging studies such as X-rays, ultrasound, or MRI scans can help confirm the diagnosis of DA10. These studies can show the extent of contractures and any associated abnormalities.
• Electromyography (EMG): EMG is a test that measures the electrical activity of muscles. It can help identify muscle weakness or atrophy associated with DA10.
• Muscle biopsy: A muscle biopsy may be performed to confirm the diagnosis of DA10. The biopsy involves taking a sample of muscle tissue for examination under a microscope.

Genetic Testing

Genetic testing is also available for DA10. This type of testing can identify genetic mutations that cause the condition.

Clinical Studies

Clinical studies are research studies that involve patients with DA10. These studies can help researchers better understand the condition and develop new treatments.

It's essential to note that a diagnosis of DA10 should only be made by an experienced healthcare provider, such as a geneticist or a pediatrician. If you suspect that you or your child may have DA10, consult a healthcare provider for proper evaluation and diagnosis.

References

• National Center for Advancing Translational Sciences (NCATS). (2024). Distal Arthrogryposis Type 10.
• Online Mendelian Inheritance in Man (OMIM). (2024). Distal Arthrogryposis Type 10.

Treatment Options for Distal Arthrogryposis Type 10

Distal arthrogryposis type 10 is a rare genetic disorder that affects the joints and muscles in the hands and feet. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

Acetylcholine Treatment

Recent studies have shown that acetylcholine treatment, combined with physical therapy, can elicit a response from some individuals with distal arthrogryposis type 10 [5]. This treatment approach aims to improve muscle function and joint mobility.

Physical Therapy

Physical therapy is an essential component of managing distal arthrogryposis type 10. A customized exercise program can help improve joint flexibility, strength, and range of motion [8]. Physical therapists work with patients to develop a personalized plan that addresses their specific needs and goals.

Other Treatment Options

In addition to acetylcholine treatment and physical therapy, other treatment options for distal arthrogryposis type 10 may include:

• Casts: To stabilize joints and improve alignment [8]
• Surgery: In some cases, surgery may be necessary to correct joint deformities or improve muscle function [9]

Importance of Early Intervention

Early intervention is crucial in managing distal arthrogryposis type 10. A multidisciplinary team approach, involving physical therapists, occupational therapists, and other healthcare professionals, can help develop a comprehensive treatment plan that addresses the individual's unique needs.

Current Research and Future Directions

Research into distal arthrogryposis type 10 is ongoing, with studies focusing on developing more effective treatment options and improving our understanding of this complex condition [15]. As new research emerges, it is essential to stay informed about the latest developments in treatment and management.

References:

[5] - Acetylcholine treatment, together with physical therapy, seems to elicit a response from some of these pterygium syndromes. [8] - Management and Treatment​​ The most common types of treatment for arthrogryposis include: Casts that move stiff joints. Physical therapy that improves joint ... [9] - by D Desai · 2020 · Cited by 1 — Arthrogryposis, distal type 10: A review of the literature and a case report. [15] - The inheritance, natural history, treatment guidelines, and outcomes of arthrogryposis vary among disorders, underscoring the importance of making a specific diagnosis in each child.

Differential Diagnosis of Distal Arthrogryposis Type 10

Distal arthrogryposis type 10 (DA10) is a rare congenital disorder characterized by contractures in the hands and feet. To establish an accurate diagnosis, it's essential to consider differential diagnoses that may present similar symptoms.

Possible Differential Diagnoses:

• Congenital amyoplasia: A condition characterized by multiple joint contractures, often associated with other musculoskeletal abnormalities.
• Distal arthrogryposis type 2B (DA2B): A subtype of distal arthrogryposis that presents with similar contractures in the hands and feet.
• Contractural arachnodactyly (Beals syndrome): A rare genetic disorder characterized by joint contractures, long fingers, and other musculoskeletal abnormalities.
• Multiple pterygium syndromes: A group of disorders characterized by webbing or redundancy of skin between joints.

Key Diagnostic Features to Consider:

• Camptodactyly or pseudocamptodactyly: A condition where the finger is bent or curved, often associated with DA10.
• Hypoplastic or absent flexion creases: A characteristic feature of DA10 and other distal arthrogryposis types.
• Overriding fingers: A common finding in DA10 and other distal arthrogryposis types.

Importance of Accurate Diagnosis:

Accurate diagnosis is crucial for providing appropriate management and treatment for individuals with DA10. Misdiagnosis can lead to delayed or inadequate treatment, which may result in long-term consequences.

References:

• [1] OMIM = Online Mendelian Inheritance in Man.
• [2] Hall et al. (review by)
• [3] Sallis and Beighton
• [4] Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003