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Kif21a-related Disorder

Disease Details

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Description: KIF21A-related disorder is a rare genetic condition caused by mutations in the KIF21A gene, often leading to congenital fibrosis of the extraocular muscles type 1 (CFEOM1), characterized by restricted eye movement and drooping eyelids.
Type: KIF21A-related disorder is a type of congenital fibrosis of the extraocular muscles (CFEOM). The type of genetic transmission is autosomal dominant.
Signs And Symptoms: KIF21A-related disorder primarily affects ocular motility and can lead to a spectrum of signs and symptoms, including:

1. **Congenital Fibrosis of the Extraocular Muscles (CFEOM):**
- Restricted eye movements.
- Eyelid ptosis (drooping eyelids).
- Fixed, often downward gaze.
- Strabismus (misaligned eyes).

2. **Duane Retraction Syndrome:**
- Limited lateral eye movement.
- Retraction of the eyeball into the socket with eye movement.
- Narrowing or widening of the eye opening when looking to the sides.

Patients with KIF21A mutations may exhibit other variable symptoms depending on the specific nature of the mutation and its effects on motor neuron development and function.
Prognosis: KIF21A-related disorder, specifically Congenital Fibrosis of the Extraocular Muscles (CFEOM1), is a genetic condition primarily affecting eye movement. Prognosis varies, but individuals generally have a normal lifespan. The condition is non-progressive, meaning symptoms typically do not worsen over time. However, visual function may be significantly impaired, potentially impacting quality of life. Treatment is primarily supportive, focusing on managing symptoms and, if necessary, surgical interventions to improve eye alignment and function.
Onset: KIF21A-related disorder, also known as Congenital Fibrosis of the Extraocular Muscles type 1 (CFEOM1), typically has an onset at birth or early infancy.
Prevalence: The prevalence of KIF21A-related disorder is not well-documented, making it difficult to provide precise figures. This condition is considered rare.
Epidemiology: The epidemiology of KIF21A-related disorders, which primarily include congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and other associated congenital eye movement disorders, is not well-documented in terms of precise prevalence and incidence rates. These conditions are considered rare genetic disorders. CFEOM1, resulting from mutations in the KIF21A gene, usually presents in early childhood and is characterized by restricted eye movement and ptosis. The available data does not provide sufficient information to establish detailed epidemiological statistics.
Intractability: KIF21A-related disorder can be intractable, depending on the specific condition and its severity. KIF21A mutations are primarily associated with congenital fibrosis of the extraocular muscles (CFEOM), which often results in lifelong ophthalmologic issues that are difficult to correct completely. Treatment typically focuses on managing symptoms and improving the patient's quality of life rather than curing the underlying genetic cause.
Disease Severity: KIF21A-related disorders encompass a range of conditions primarily affecting eye movement, with Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) being a common example. Severity varies, but it typically includes:

1. **Ocular Symptoms**: Severe congenital eye movement limitations, ptosis (drooping eyelids), and strabismus (misalignment of the eyes).
2. **Vision Impact**: Some patients may experience amblyopia ("lazy eye") due to misalignment.
3. **Associated Features**: Rarely, non-ocular symptoms like developmental delays and sensorineural hearing loss.

The severity can range from moderate impairment in daily activities to significant challenges requiring surgical intervention and supportive therapies.
Pathophysiology: KIF21A-related disorder primarily affects the nervous system and is typically associated with congenital fibrosis of the extraocular muscles (CFEOM). The pathophysiology of this disorder involves mutations in the KIF21A gene, which encodes for a kinesin family member that is important for microtubule-dependent transport processes within neurons. These mutations lead to defective axonal transport and abnormal development of the oculomotor nerve, resulting in the characteristic restrictive ophthalmoplegia and ptosis seen in patients with CFEOM.
Carrier Status: KIF21A-related disorders are typically inherited in an autosomal dominant manner. In this context, "carrier status" is not typically applicable because these disorders usually manifest if a person has one copy of the mutated gene. Unlike recessive disorders where carriers may not show symptoms, individuals with a KIF21A mutation often do exhibit clinical features of the disorder. Therefore, the concept of being a "carrier" without symptoms is generally not relevant for KIF21A-related disorders.
Mechanism: KIF21A-related disorders primarily involve mutations in the KIF21A gene, which encodes a kinesin motor protein involved in intracellular transport. These mutations can lead to malfunction or altered function of the protein, affecting neuronal transport and axonal guidance. This disruption can result in congenital fibrosis of the extraocular muscles (CFEOM), type 1, a condition characterized by restricted eye movements and drooping eyelids. The precise molecular mechanisms are still being studied, but it is believed that the mutations impair the kinesin's ability to interact with microtubules, affecting neuronal cell function and leading to the observed phenotypic abnormalities.
Treatment: Currently, there is no specific treatment for KIF21A-related disorders. Management typically involves supportive care based on symptoms, which may include:

1. **Regular Monitoring**: Regular follow-ups with healthcare providers to monitor the progression of symptoms.
2. **Physical Therapy**: To improve mobility and muscle strength.
3. **Occupational Therapy**: To assist with daily activities and enhance quality of life.
4. **Vision Care**: For eye-related issues, vision therapy, corrective lenses, or surgical interventions may be considered.
5. **Genetic Counseling**: For affected individuals and their families to understand the condition and its inheritance patterns.

Treatment is multidisciplinary, involving neurologists, ophthalmologists, physiotherapists, and other specialists as needed.
Compassionate Use Treatment: KIF21A-related disorders are genetic conditions often associated with ocular motility disturbances such as Congenital Fibrosis of the Extraocular Muscles (CFEOM). Currently, there are no specific drugs approved for treating the root genetic cause. However, compassionate use or off-label treatments may include:

1. **Botulinum Toxin Injections**: Sometimes used to manage strabismus and other muscle-related symptoms.
2. **Surgical Interventions**: Eye muscle surgery is commonly used to correct abnormal eye movements or positions.
3. **Physical Therapy**: Continuous management via physical therapy may help improve motor function and eye-hand coordination.

Experimental treatments would be highly dependent on ongoing clinical trials, which might explore gene therapy, advanced pharmacological agents, or novel surgical techniques. Always consult with a specialist in genetic disorders or a medical geneticist to explore available and appropriate options.
Lifestyle Recommendations: For individuals with KIF21A-related disorder, lifestyle recommendations can include:

1. **Regular Monitoring and Medical Care**: Frequent consultations with healthcare professionals to monitor and manage symptoms.
2. **Physical Therapy**: Engaging in tailored physical therapy exercises to improve mobility and muscle function.
3. **Occupational Therapy**: To help with daily activities and enhance quality of life.
4. **Healthy Diet**: A balanced diet to support overall health and wellbeing.
5. **Genetic Counseling**: For families to understand inheritance patterns and risks.
6. **Adaptive Tools and Technologies**: Use of assistive devices to aid in mobility and daily activities.
7. **Emotional Support**: Including psychotherapy or support groups to manage psychological impacts.
Medication: There is no specific medication currently available for KIF21A-related disorders. Treatment typically focuses on managing the symptoms and may involve a multidisciplinary approach, including physical therapy, occupational therapy, and potentially surgical interventions for associated abnormalities.
Repurposable Drugs: KIF21A-related disorders are genetic conditions typically associated with congenital fibrosis of the extraocular muscles (CFEOM). To date, there are no specific repurposable drugs that have been widely recognized for treating these disorders. Management primarily involves addressing symptoms, which may include surgical interventions for eye alignment and supportive therapies. More research is needed to identify potential pharmacological treatments.
Metabolites: KIF21A-related disorders primarily involve mutations in the KIF21A gene, which affects motor proteins crucial for cellular transport processes. As such, these disorders typically manifest as congenital fibrosis of the extraocular muscles (CFEOM), impacting eye movement and alignment. Specific metabolites associated with KIF21A-related disorders are not well-documented, as the primary issue lies in the genetic and protein dysfunction rather than metabolic pathways. Therefore, no abnormal metabolites are typically reported in this context.
Nutraceuticals: KIF21A-related disorder is a genetic condition primarily affecting ocular motility, leading to congenital fibrosis of the extraocular muscles. Currently, there are no specific nutraceuticals known to treat or alleviate symptoms of KIF21A-related disorder. Nutraceuticals are products derived from food sources that provide extra health benefits in addition to the basic nutritional value found in foods. However, for genetic disorders like this, the primary treatment modalities are usually surgical procedures, supportive therapies, or genetic counseling rather than nutraceuticals.
Peptides: KIF21A-related disorders are genetic conditions caused by mutations in the KIF21A gene, which affects the function of motor proteins critical for intracellular transport in neurons. These disorders often lead to congenital fibrosis of the extraocular muscles (CFEOM), characterized by restricted eye movement and ptosis.

For peptides: There are no specific peptide treatments currently approved for KIF21A-related disorders.

For nanomedicine (nan): Research in nanomedicine related to KIF21A remains in very early stages, with no established nanomedicine treatments available for these disorders at this time. Research is ongoing to explore potential future applications in targeted drug delivery and gene therapy.