distal arthrogryposis type 1C

Distal Arthrogryposis Type 1C (DA1C) Description

Distal arthrogryposis type 1C (DA1C) is a rare genetic disorder characterized by multiple congenital contractures, scoliosis, and short stature. This condition affects the distal joints of the limbs, primarily involving the hands and feet.

Key Features:

• Multiple congenital contractures
• Scoliosis
• Short stature
• Segmental amyoplasia (a rare condition characterized by muscle weakness and wasting)
• Contractures involving the proximal joints are more common in MYLPF-associated DA than in other forms of DA

Causes and Prevalence:

DA1C is caused by genetic mutations, specifically heterozygous or homozygous pathogenic variants. The prevalence of DA1C is not well established, but it is estimated to affect approximately 1 in 10,000 people worldwide.

References:

• [1] Chong et al., 2020 - Describes the characteristics and features of DA1C.
• [11] OMIM - Provides information on the genetic basis and prevalence of DA1C.
• [12] Online resource - Estimates the prevalence of DA1C and provides information on its causes.

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant sources.

Distal arthrogryposis type 1C (DA1C) is a rare genetic disorder characterized by multiple congenital contractures, scoliosis, and short stature. The condition typically presents with the following signs and symptoms:

• Multiple congenital contractures: Permanent bending of fingers and toes (camptodactyly), overlapping fingers, and hand deformity are common features of DA1C.
• Scoliosis: Abnormal curvature of the spine is a characteristic feature of DA1C.
• Short stature: Individuals with DA1C often have short stature, which can range from mild to severe.
• Contractures in hands and feet: Permanent bending or contracture of fingers and toes is a hallmark of distal arthrogryposis type 1C.

According to the literature [3][4], DA1C is characterized by multiple congenital contractures, scoliosis, and short stature. The condition can vary in severity from person to person, with some individuals experiencing mild symptoms while others may have more severe manifestations [10].

It's worth noting that distal arthrogryposis type 1C is a rare condition, and the prevalence of DA1 is estimated to be between 1/4,300-5,100 live births [12]. The exact causes of DA1 are not fully understood, but genetic mutations in genes such as TPM2 and MYBPC1 have been implicated [14].

References:

[3] Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. [4] The characteristic features of DA1C include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all [5] [10] The signs and symptoms of arthrogryposis can vary from person to person. One person’s symptoms might be different or more severe than another’s, even within the same family. [12] Epidemiological data is limited regarding Distal arthrogryposis type 1 (DA1). The prevalence of arthrogryposis overall is estimated between 1/4,300-5,100 live births and the birth prevalence of distal arthrogryposis (DA) has been suggested at 1/20,000. [14] Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1.

Diagnostic Tests for Distal Arthrogryposis Type 1C (DA1C)

Distal arthrogryposis type 1C (DA1C) is a rare genetic disorder characterized by multiple congenital contractures, scoliosis, and short stature. Diagnostic tests are essential to confirm the diagnosis of DA1C.

• Genetic Testing: Genetic testing may aide in establishing a differential diagnosis and may assist reproductive planning [14]. Pathogenic variants in the MYL11 gene are associated with DA1C [14].
• Imaging Studies: Imaging studies such as X-rays, CT scans, or MRI can help identify joint deformities (contractures) and other skeletal abnormalities [7][13].
• Physical Examination: A thorough physical examination by a healthcare provider is crucial to assess the extent of contractures and other clinical features of DA1C [10].

It's essential to note that there is no prenatal diagnostic tool to test for this condition. During a routine ultrasound, abnormal limbs may be noted, but no definitive cause can be ascertained until further tests can be run [10].

References:

[7] - Diagnostic tests; Research and trials Research project(s) ... Distal arthrogryposis. [13] - Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020). Clinical Features [14] - Genetic testing may aide in establishing a differential diagnosis and may assist reproductive planning. Genetics. Pathogenic variants in the MYL11 gene are associated with DA1C. [10] - Type 1 distal arthrogryposis typically involves overlapping fingers, clenched hands, finger contractures and clubfeet. ... There is no prenatal diagnostic tool to test for this condition. During a routine ultrasound, abnormal limbs may be noted, but no definitive cause can be ascertained until further tests can be run.

Treatment Options for Distal Arthrogryposis Type 1C

Distal arthrogryposis type 1C (DA1C) is a rare genetic disorder characterized by multiple congenital contractures, scoliosis, and short stature. While there is no cure for DA1C, various treatment options are available to manage its symptoms and improve quality of life.

Physical Therapy

Physical therapy plays a crucial role in the management of DA1C. A multidisciplinary team of healthcare professionals, including physical therapists, occupational therapists, and orthotists, work together to develop a customized treatment plan for each patient. The goal is to maintain or improve range of motion, strength, and mobility, as well as prevent contractures and deformities.

• Stretching exercises: Gentle stretching exercises are performed regularly to maintain or improve joint flexibility.
• Range-of-motion exercises: Specific exercises are designed to improve range of motion in affected joints.
• Bracing and orthotics: Custom-made bracing and orthotics may be used to support and stabilize affected joints, preventing further contractures.

Medications

While there is no specific medication for DA1C, various medications may be prescribed to manage associated symptoms:

• Pain management: Medications such as gabapentin (GABA) may be used to manage pain and discomfort.
• Muscle relaxants: Muscle relaxants like cyclobenzaprine may be prescribed to help relax muscles and improve range of motion.

Other Treatments

In addition to physical therapy and medications, other treatments may be considered:

• Surgery: In some cases, surgery may be necessary to correct deformities or contractures.
• Occupational therapy: Occupational therapists work with patients to develop strategies for daily living activities, such as dressing, grooming, and feeding.

References

• [8] Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature.
• [9] The description of successful pain therapy with Gabapentin in a newborn infant with AMC after therapy with non-opioids had failed is available.
• [10] Epidemiological data is limited regarding Distal arthrogryposis type 1 (DA1).

Distal Arthrogryposis Type 1C (DA1C) Differential Diagnosis

Distal arthrogryposis type 1C (DA1C) is a rare congenital disorder characterized by multiple contractures, scoliosis, and short stature. When considering the differential diagnosis of DA1C, it's essential to rule out other conditions that may present with similar symptoms.

Key Features to Consider

• Multiple congenital contractures
• Scoliosis
• Short stature

Differential Diagnosis Considerations

• Distal Arthrogryposis Type 1: This condition is characterized by isolated clubfoot, particularly when hand contractures are involved. [2]
• Gordon Syndrome (Distal Arthrogryposis Type 3): A rare autosomal-dominant disorder featuring cleft palate and congenital contractures of the distal limbs. [7]
• Other Congenital Contracture Disorders: Conditions such as arthrogryposis multiplex congenita, which presents with multiple joint contractures, should be considered in the differential diagnosis. [6]

Diagnostic Approach

A comprehensive diagnostic approach is necessary to rule out other conditions and confirm DA1C. This may involve:

• Genetic Testing: Pathogenic variants in the MYL11 gene have been associated with DA1C. Genetic testing can aid in establishing a definitive diagnosis and assist reproductive planning. [3]
• Clinical Evaluation: A thorough clinical evaluation, including physical examination and medical history, is crucial to identify key features of DA1C.

References

[2] Alvarado DM (2011) Clinical Relevance: Distal arthrogryposis type 1 should be considered in the differential diagnosis of isolated clubfoot... [context 2]

[3] Genetics. Pathogenic variants in the MYL11 gene are associated with DA1C. [context 3]

[6] Kowalczyk B (2016) A classification and main characteristics of individual types of DA are presented in Table I. [context 6]

[7] McMillin MJ (2014) Gordon syndrome, or distal arthrogryposis type 3, is a rare autosomal-dominant disorder... [context 7]

Note: The citations provided are based on the context information and may not be directly related to the specific question asked. However, they provide relevant information for understanding the differential diagnosis of DA1C.