multiple epiphyseal dysplasia 4

Multiple epiphyseal dysplasia type 4 (MED4) is a rare genetic disorder that affects the growth zones of bones, leading to abnormal skeletal development.

Characteristics and Symptoms:

• MED4 follows an autosomal recessive mode of transmission [3].
• The disease is allelic to diastrophic dwarfism, atelosteogenesis type II, and other related disorders [3].
• Individuals with MED4 may experience short stature, joint pain and stiffness, and other skeletal abnormalities [4].

Key Features:

• Abnormal development of the bone and cartilage of the epiphyses (the growing ends of bones) [9].
• Affects the growth zones of bones, leading to abnormal skeletal development [2].
• Can cause short stature, joint pain and stiffness, and other skeletal abnormalities [4].

Important Notes:

• MED4 is a rare genetic disorder, and its symptoms may vary from person to person [6].
• Early diagnosis and treatment are crucial for managing the condition effectively [5].

References: [1] - Not relevant [2] - Jun 1, 2015 [3] - Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type ... [4] - Multiple epiphyseal dysplasia is a type of skeletal dysplasia. It affects the ends of the long bones, leading to short stature, joint pain and stiffness, ... [5] - Jul 4, 2024 — Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. [6] - Oct 26, 2023 — Multiple epiphyseal dysplasia (MED) is a rare genetic disorder that affects the growing ends of bones. [7] - Not relevant [8] - Not relevant [9] - Multiple epiphyseal dysplasia (MED) is a general term for a group of disorders characterized by abnormal development of the bone and cartilage of the epiphyses.

Initial Signs and Symptoms

The initial signs and symptoms of multiple epiphyseal dysplasia (MED) may include pain in the hips and knees after exercise [7]. This is often one of the first indicators that something is amiss. As the condition progresses, joint disease, particularly affecting the large weight-bearing bones, becomes more common [4].

Common Affected Areas

The hips and knees are most commonly affected by MED, with pain and stiffness being frequent complaints [6]. In some cases, individuals may also experience short stature (height less than expected for age) and arthritis at a young age [1].

Progressive Joint Disease

As the condition advances, progressive joint disease becomes more pronounced, particularly in the large weight-bearing bones [4]. This can lead to further complications and a decrease in quality of life.

References: [1] - Short stature (height less than expected for age) is one of the signs of multiple epiphyseal dysplasia. [4] - Initial signs may include pain in the hips and knees after exercise. Progressive joint disease, particularly of the large weight-bearing bones, is common. [6] - short stature (height less than expected for age); arthritis at a young age; joint pain after activity; joint stiffness after sitting a long time are symptoms of multiple epiphyseal dysplasia. [7] - Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise.

Multiple epiphyseal dysplasia (MED) type 4 is a rare genetic disorder that affects the development of cartilage and bone in the ends of long bones. Diagnostic tests for MED type 4 typically involve a combination of clinical evaluation, radiographic imaging, and molecular genetic testing.

Radiographic Imaging

• Radiographs (X-rays) are often used to display flat epiphyses with early arthritis of the hip and double-layered patella [2].
• Internal proficiency testing is conducted biannually in compliance with all CAP regulations for some tests [3].

Molecular Genetic Testing

• Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia, including MED type 4 [6].
• This test can detect mutations in the genes responsible for the disorder.

Other Diagnostic Tests

• Sequence analysis, deletion/duplication analysis, and other non-sequencing-based tests may be used to confirm the diagnosis [1].

It's worth noting that the initial diagnosis of MED type 4 is typically based on clinical and radiographic features, though molecular genetic testing can provide additional support for the diagnosis [4]. A doctor will also do an exam and order X-rays and genetic testing to confirm the diagnosis [9].

Medicines for Pain Management

Multiple epiphyseal dysplasia treatment often involves the use of medicines to help manage pain and discomfort. According to various sources, nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly prescribed to reduce inflammation and alleviate joint pain [2]. These medications can be effective in managing symptoms, but it's essential to follow a doctor's guidance on dosage and usage.

In some cases, other types of medications may also be used to help manage pain and discomfort associated with multiple epiphyseal dysplasia. However, the specific treatment plan will depend on individual needs and circumstances [4].

References:

• [2] - Medicines, such as nonsteroidal anti-inflammatory drugs (NSAIDs), to help reduce inflammation and alleviate joint pain.
• [4] - Treatment is usually physical therapy and pain management.

Differential Diagnosis of Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED) is a rare genetic disorder characterized by abnormal skeletal development mainly affecting the growth zones of bones. The differential diagnosis for MED includes several other conditions that present with similar clinical and radiographic features.

• Pseudoachondroplasia: This condition also presents with short stature, marked ligamentous laxity, and pes planovalgus, making it a differential diagnosis for MED.
• Spondyloepiphyseal dysplasia: This condition is characterized by irregular, delayed ossification at multiple epiphyses, which can be similar to the radiographic findings in MED.
• Multiple epiphyseal dysplasia (MED): The term "differential" is used nonrigorously in calculus to refer to an infinitesimal ("infinitely small") change in some varying quantity. However, in the context of MED, it refers to the process of distinguishing between different conditions that present with similar clinical and radiographic features.

Key Points to Consider

• Clinical presentation: Short stature, marked ligamentous laxity, and pes planovalgus are common features of both pseudoachondroplasia and MED.
• Radiographic findings: Irregular, delayed ossification at multiple epiphyses is a characteristic feature of spondyloepiphyseal dysplasia and can be similar to the radiographic findings in MED.
• Molecular basis: Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive.

References

[1] Oct 26, 2023 — Pseudoachondroplasia - Features of pseudoachondroplasia include marked ligamentous laxity and pes planovalgus in addition to short stature. [4] by S Unger · 2008 · Cited by 74 — Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular diagnosis is important ... [6] Jun 16, 2021 — Diagnosis is made radiographically with presence of irregular, delayed ossification at multiple epiphyses. ... Spondyloepiphyseal dysplasia. [9] Oct 26, 2023 — Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis. Best Pract Res Clin Rheumatol