osteogenesis imperfecta type 9

Osteogenesis imperfecta type IX (OI9) is a severe form of the disorder characterized by bone fragility and increased susceptibility to fractures [5]. It is an autosomal recessive form, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition [5].

Individuals with OI9 often experience more severe symptoms than those with other forms of osteogenesis imperfecta, including a higher risk of fractures and a greater degree of bone fragility [5]. The exact prevalence of OI9 is not well established, but it is considered to be one of the rarer forms of the disorder.

It's worth noting that there is limited information available on Osteogenesis imperfecta type IX in the search results provided. However, based on the information available, it appears to be a severe form of the disorder characterized by bone fragility and increased susceptibility to fractures.

Osteogenesis imperfecta (OI) type 9, also known as brittle bone disease, is a rare genetic disorder that affects the production of collagen, leading to fragile bones. While there may not be specific information available on OI type 9, we can look at general symptoms and signs associated with other types of OI.

Common Signs and Symptoms:

• Bone Fragility: The major symptom of all forms of osteogenesis imperfecta (OI) is bone fragility resulting in frequent fractures [4].
• Short Stature: People with Type III OI may have anywhere from 2 to 10 times the normal number of fractures, which can lead to short stature and progressive long bone deformities [5].
• Blue Sclerae: Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems, and more [6].
• Easily Broken Bones: The symptoms of OI vary greatly within and between types. Symptoms of OI include: Easily broken bones. Bone deformities, such as bowing of the legs [7].

OI Type III Specifics:

• Infants with OI type III have very soft and fragile bones that may begin to fracture easily [8].

Please note that these symptoms are not specific to OI type 9, but rather general signs and symptoms associated with other types of osteogenesis imperfecta. If you're looking for information on a specific type of OI, it's possible that there might be limited or no available data.

References: [4] - According to the Osteoporosis and Related Bone Diseases National Resource Center. [5] - Common signs include short stature, progressive long bone deformities, spinal curvature, and a barrel-shaped rib cage. People with Type III OI may have anywhere from 2 to 10 times the normal number of fractures. [6] - Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems... [7] - The symptoms of OI vary greatly within and between types. Symptoms of OI include: Easily broken bones. Bone deformities, such as bowing of the legs. [8] - Type III OI also has relatively severe signs and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture...

Osteogenesis imperfecta (OI) type 9, also known as PPIB-related OI, is a severe autosomal recessive form of the disorder [2]. Diagnosing this condition can be challenging, but various tests and examinations can help confirm the diagnosis.

Genetic Analysis A genetic blood test that detects the change in the inherited gene can diagnose OI type 9 and identify the type of OI [12]. This test is particularly useful for individuals with a personal and/or family history of this disorder to ensure accurate diagnosis.

Next-Generation Sequencing (NGS) This advanced sequencing technique can detect single nucleotide and copy number variants in 25 genes associated with osteogenesis imperfecta, including PPIB-related OI [6]. NGS is a powerful tool for identifying genetic mutations that cause OI type 9.

Clinical Molecular Genetics Test A clinical molecular genetics test, such as the one offered by Bioarray, can diagnose OI type 9 using sequence analysis of the entire coding region and next-generation sequencing (NGS) [14]. This comprehensive test is designed to identify genetic mutations associated with PPIB-related OI.

Other Diagnostic Tools In addition to these specialized tests, doctors may use other diagnostic tools to confirm a diagnosis of OI type 9. These include:

• Physical examination
• Family and medical history review
• X-rays and bone density tests

It's essential to consult with a healthcare professional for accurate diagnosis and treatment of osteogenesis imperfecta type 9.

References: [2] van Dijk et al., (2009) - Osteogenesis imperfecta type IX: A severe autosomal recessive form of the disorder. [6] Next-generation sequencing test for osteogenesis imperfecta. [12] Diagnostic tests for osteogenesis imperfecta. [14] Clinical Molecular Genetics test for Osteogenesis imperfecta type 9.

Current Drug Treatments for Osteogenesis Imperfecta (OI) Type 9

While there are no licensed treatments specifically developed for children with osteogenesis imperfecta, including Type 9, off-label treatment with bisphosphonates is currently being used [9]. This approach involves administering medications originally designed to treat age-related osteoporosis or cancer-related bone loss in adults.

Medications Used in OI Treatment

The commonly used medications in OI treatment include:

• Bisphosphonates (oral alendronate, IV pamidronate, and zoledronic acid)
• Denosumab
• Synthetic parathyroid hormone
• Growth hormone for children therapy

These medications aim to prevent fractures, control symptoms, and increase bone mass [14]. However, it's essential to note that these treatments are not specifically developed for OI Type 9 or any other type of osteogenesis imperfecta.

Pharmacological Alternatives

Recent reviews have highlighted the use of antiresorptive agents, anabolic agents, growth hormone, and anti-TGFβ antibody as potential pharmacological alternatives for treating OI [15]. These treatments are grounded on clinical and preclinical reports, offering new avenues for managing this condition.

Expanded Access to Investigational Medications

In cases where no comparable or satisfactory alternative therapy options are available, Expanded Access may be a potential pathway for patients with serious or immediately life-threatening diseases, including osteogenesis imperfecta [11]. This approach allows access to investigational medical products outside of clinical trials when no other suitable treatment options exist.

Current Gold Standard in OI Treatment

The current gold standard in OI treatment is considered the use of bisphosphonates, which are anti-resorptive drugs that inhibit osteoclasts' activity [7]. These medications have been widely used in the treatment of children and adults with OI, showing good evidence of increasing bone mineral density (BMD) [4].

Cyclic IV Pamidronate Therapy

Cyclic intravenous pamidronate is commonly given in a dosage of 7.5 mg/kg/y at 4- to 6-month intervals, with dosages ranging from 4.5 to 9 mg/kg/y [2]. This treatment approach has been used to manage OI symptoms and prevent fractures.

References:

[1] by E Monti · 2010 · Cited by 210 [7] by A Dinulescu · 2024 · Cited by 4 [9] by P Arundel · 2024 · Cited by 2 [11] [14]

Osteogenesis imperfecta (OI) type 9, also known as dominant OI, is a genetic disorder characterized by bone fragility and low serum alkaline phosphatase levels [1]. When considering the differential diagnosis for OI type 9, several conditions should be taken into account.

Key Differential Diagnoses:

• Non-accidental trauma: This is a major concern in cases of suspected child abuse, as it can present with similar symptoms to OI type 9. Molecular genetic sequencing can help differentiate between the two [3].
• Idiopathic osteoporosis: This condition also presents with bone fragility and low serum alkaline phosphatase levels, making it a potential differential diagnosis for OI type 9.
• Ehlers-Danlos syndrome (EDS): EDS is a group of genetic disorders that affect the connective tissue in the body. It can present with similar symptoms to OI type 9, such as skin hyperextensibility and joint laxity [8].
• Marfan's syndrome: This genetic disorder affects the connective tissue in the body and can present with similar symptoms to OI type 9, such as tall stature and long limbs.
• Achondrogenesis type I: This rare genetic disorder is characterized by short-limbed dwarfism and can present with similar symptoms to OI type 9.

Other Conditions:

• Campomelic dysplasia: This genetic disorder affects the development of bones and cartilage, leading to skeletal deformities.
• Thanatophoric dysplasia: This rare genetic disorder is characterized by short-limbed dwarfism and can present with similar symptoms to OI type 9.
• Infantile/perinatal/lethal osteogenesis imperfecta: These are severe forms of OI that can present with similar symptoms to OI type 9.

References:

[1] Mar 18, 2024 — This condition is characterized by low serum alkaline phosphatase levels and, in the severe recessive form, skin dimples overlying Bowdler spurs ...

[3] Jul 26, 2020 — The major differential diagnosis with types I and IV OI is non-accidental trauma. Molecular genetic sequencing, whether via broad-based ...

[8] by JE Sam · 2017 · Cited by 39 — Differential diagnosis: OI needs to be differentiated from other disorders of bone and collagen [Table 2].

Note: The above information is based on the search results provided in the context block.