distal arthrogryposis type 5D

Distal Arthrogryposis Type 5D (DA5D) Overview

Distal arthrogryposis type 5D, also known as DA5D, is a rare subtype of distal arthrogryposis syndrome. This condition is characterized by congenital contractures affecting the hands, feet, ankle, shoulders, and/or neck.

Key Features:

• Camptodactyly: Severe camptodactyly (bent fingers) of the hands, including adducted thumbs and wrists
• Mild Camptodactyly: Mild camptodactyly of the toes
• Clubfoot and/or Calcaneovalgus Deformity: Clubfoot or calcaneovalgus deformity (a condition where the heel bone is displaced)
• Extension Contractures: Extension contractures of the knee
• Asymmetric Ptosis: Asymmetric ptosis (drooping eyelid) associated with other ocular manifestations, such as ophthalmoplegia (weakness or paralysis of one or more extraocular muscles)

Other Characteristics:

• DA5D is an autosomal recessive condition, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• The condition typically presents at birth or in early infancy.

References:

• McMillin et al. (2013)
• Cohen et al. (2022)
• OMIM: 615065
• UMLS: C3554415

Note: This information is based on the search results provided and may not be comprehensive or up-to-date. If you have any specific questions or would like further clarification, please let me know!

Common Signs and Symptoms of Distal Arthrogryposis Type 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome, characterized by various physical deformities and limitations. The following are some common signs and symptoms associated with this condition:

• Arthrogryposis multiplex congenita: This refers to the presence of multiple joint contractures at birth.
• Camptodactyly: A condition where one or more fingers are permanently bent, often accompanied by adducted thumbs and wrists.
• Limited knee and hip extension: Reduced mobility in the knees and hips, making it difficult to straighten these joints.
• Asymmetric ptosis: Drooping eyelids that are more severe on one side than the other.
• Other ocular manifestations: Less frequently, individuals with distal arthrogryposis type 5D may experience ophthalmoplegia (paralysis of eye muscles), strabismus (crossed eyes), or other eye-related issues.

Additional Physical Deformities

Some people with distal arthrogryposis type 5D may also experience:

• Clubfoot: A deformity where one foot is twisted inward, making it difficult to walk.
• Calcaneovalgus deformity: An abnormal curvature of the heel and ankle joint.
• Round-shaped face: Some individuals with distal arthrogryposis type 5D may have a distinctive facial appearance.

Variability in Symptoms

It's essential to note that the signs and symptoms of distal arthrogryposis type 5D can vary significantly from person to person, even within the same family. Some individuals may experience more severe or different symptoms than others.

References: * McMillin et al. (2013) - Designated DA5D by this study. * Various online sources and medical literature.

Diagnostic Tests for Distal Arthrogryposis Type 5D

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome, and its diagnosis can be challenging. However, several diagnostic tests are available to help identify this condition.

• Genetic Testing: Genetic testing is a crucial step in diagnosing distal arthrogryposis type 5D. A genetic test for the ECEL1 gene can help confirm the presence of this condition [5][6].
• Exome-Based Next-Generation Sequencing (NGS): Exome-based NGS with CNV analysis is a preferred testing approach for distal arthrogryposis type 5D. This method allows for cost-effective reflexing to PGxome or other exome-based sequencing [7].
• Clinical Genetic Test: A clinical genetic test offered by PreventionGenetics, part of Exact Sciences, can also be used to diagnose distal arthrogryposis type 5D [9].

Diagnostic Teams

A diagnostic team for distal arthrogryposis type 5D may include:

• Genetics: Genetic specialists play a crucial role in diagnosing and managing this condition.
• Orthopedics: Orthopedic specialists can help manage the musculoskeletal aspects of distal arthrogryposis type 5D [10].

PCP Involvement

A primary care physician (PCP) can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team. They can also provide guidance on managing this condition [8].

Differential Diagnosis of Distal Arthrogryposis Type 5D

Distal arthrogryposis type 5D (DA5D) is a rare subtype of distal arthrogryposis syndrome characterized by congenital contractures affecting the hands, feet, ankle, shoulders, and/or neck. When diagnosing DA5D, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• DA1: A subtype of distal arthrogryposis characterized by camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, and limited knee extension [6].
• Freeman-Sheldon syndrome (DA2A): A rare genetic disorder that affects the hands, feet, and face, characterized by camptodactyly, ptosis, and facial asymmetry [4].
• Sheldon-Hall syndrome (DA2B): Another subtype of distal arthrogryposis, characterized by camptodactyly, limited knee extension, and facial features similar to those seen in DA2A [3].
• Trismus pseudocamptodactyly (DA7): A rare condition that affects the hands and feet, characterized by limited mobility of the fingers and toes, as well as trismus (lockjaw) [14].

Diagnostic Teams for Distal Arthrogryposis Type 5D

When diagnosing DA5D, a multidisciplinary team may be involved, including:

• Genetics
• Orthopedics
• Rare Disease Experts

These experts can help determine the underlying cause of the condition and develop an appropriate treatment plan.

References:

[6] Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, ... [3] DA2B (Sheldon-Hall syndrome) is another subtype of distal arthrogryposis, characterized by camptodactyly, limited knee extension, and facial features similar to those seen in DA2A. [4] Freeman-Sheldon syndrome (DA2A) is a rare genetic disorder that affects the hands, feet, and face, characterized by camptodactyly, ptosis, and facial asymmetry.