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Congenital Fibrosis Of Extraocular Muscles Type 1

Disease Details

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Description: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a genetic disorder characterized by congenital non-progressive ophthalmoplegia and fibrosis of the extraocular muscles, typically resulting in droopy eyelids (ptosis) and misalignment of the eyes (strabismus).
Type: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is primarily transmitted in an autosomal dominant manner.
Signs And Symptoms: Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) primarily affects eye movement and position. Signs and symptoms include:

- Restricted eye movements
- Ptosis (drooping eyelids)
- Eyes typically fixed in an abnormal downward gaze
- Compensatory head postures (tilting or turning of the head to improve vision)
- Strabismus (misalignment of the eyes)

Neurological and systemic symptoms are typically absent, as CFEOM1 primarily involves the extraocular muscles.
Prognosis: Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) is a rare genetic disorder characterized by congenital, non-progressive ophthalmoplegia and ptosis.

**Prognosis:**
CFEOM1 typically results in lifelong visual impairment. While the condition does not usually lead to complete blindness, affected individuals often experience significant challenges with eye movement and may require surgical or other interventions to improve function and appearance. The disorder itself is not life-threatening, and life expectancy is normal.
Onset: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) has an onset at birth.
Prevalence: There is limited specific data on the prevalence of Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1). It is considered a rare genetic disorder, typically described in medical literature as occurring in fewer than 1 in 1,000,000 individuals worldwide.
Epidemiology: The epidemiology of Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) is not well-documented, but it is considered a rare genetic disorder. CFEOM1 prevalence is estimated to be less than 1 in 1,000,000 people. It typically follows an autosomal dominant inheritance pattern. Due to its rarity, specific prevalence rates can be difficult to ascertain.
Intractability: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is generally considered intractable, meaning it is challenging to cure or manage completely. CFEOM1 is a rare genetic disorder characterized by fibrosis of the extraocular muscles, leading to ophthalmoplegia (paralysis or weakness of the eye muscles) and ptosis (drooping of the upper eyelids). While surgical and non-surgical interventions can improve eye alignment and function to some extent, they do not address the underlying cause, and full correction is often not achievable. Therefore, ongoing management and tailored interventions are typically required.
Disease Severity: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is typically severe, with affected individuals presenting significant limitations in eye movements. This condition often leads to lifelong strabismus (misalignment of the eyes) and ptosis (drooping of the upper eyelids). While the severity can vary, most patients experience marked impairments that significantly affect their visual function.
Pathophysiology: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a genetic ocular disorder characterized by congenital non-progressive ophthalmoplegia and ptosis. The pathophysiology involves mutations in the KIF21A gene, which encodes a kinesin motor protein critical for the proper development and function of the extraocular muscles. These mutations lead to abnormal muscle and nerve development, resulting in fibrosis and restricted eye movement.
Carrier Status: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant genetic disorder. This means that individuals with just one copy of the mutated gene can exhibit symptoms of the condition. Carrier status is not typically described for autosomal dominant conditions in the same way it is for autosomal recessive conditions because having one mutated gene copy is sufficient to cause the disorder.
Mechanism: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a genetic disorder characterized by restrictive ophthalmoplegia and ptosis. Here's an overview of its mechanisms:

**Mechanism:**
CFEOM1 primarily affects the extraocular muscles, leading to limited eye movement (ophthalmoplegia) and drooping of the upper eyelids (ptosis). The condition is usually apparent at birth or in early infancy and impairs the muscles responsible for eye movements.

**Molecular Mechanisms:**
CFEOM1 is most commonly associated with mutations in the KIF21A gene, which provides instructions for making a kinesin motor protein involved in intracellular transport along microtubules. Mutations in KIF21A disrupt the normal functioning of this motor protein, leading to developmental anomalies in the cranial nerves that innervate the extraocular muscles. This disruption causes fibrosis and impaired muscle function, resulting in the clinical features observed in CFEOM1.
Treatment: Treatment for Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) generally involves surgical and non-surgical approaches to improve ocular alignment and function.

1. **Surgical Treatments**:
- Strabismus surgery: To reposition the extraocular muscles to improve alignment and reduce double vision.
- Eyelid surgery: To address ptosis (drooping eyelids) and improve the visual field.

2. **Non-Surgical Treatments**:
- Eyeglasses or contact lenses: To correct refractive errors and improve vision.
- Patching therapy: For amblyopia (lazy eye) management in young children.

There is no cure for CFEOM1, and treatment focuses on managing symptoms and improving quality of life.
Compassionate Use Treatment: Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1) is a rare genetic eye movement disorder. When considering compassionate use treatments or off-label/experimental options, it generally involves:

1. **Botulinum Toxin Injections:** These may be used off-label to temporarily reduce muscle stiffness and improve eye alignment, though it is not a cure.

2. **Experimental Gene Therapy:** Since CFEOM1 is a genetic condition, experimental gene therapies may be explored to address the underlying genetic mutations, though these are still in the research phase.

3. **Molecular Therapies:** Experimental drugs that target specific pathways involved in muscle fibrosis may also be investigated.

It is crucial for patients or caregivers to discuss these options thoroughly with medical professionals to understand potential benefits, risks, and the status of ongoing clinical trials.
Lifestyle Recommendations: For Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1):

Lifestyle Recommendations:
1. **Regular Ophthalmologist Visits:** Consistent check-ups to monitor eye health and functionality.
2. **Vision Therapy:** Engaging in vision therapy exercises as recommended by a healthcare professional to optimize remaining visual capabilities.
3. **Protective Eyewear:** Using protective eyewear to prevent injury, given the limited eye movement.
4. **Adapted Learning Tools:** Utilizing adaptive technologies and learning tools to assist with reading and educational activities.
5. **Home Environment Adjustments:** Arranging living spaces to reduce the need for extensive eye movement and ensure safety.
6. **Physical Activity:** Engaging in activities that do not require precise eye movements or coordination can be beneficial for overall well-being.
7. **Support Networks:** Joining support groups for individuals and families dealing with similar conditions can provide emotional and practical support.

These recommendations can help manage symptoms and improve the quality of life for individuals with CFEOM1.
Medication: There is currently no specific medication for Congenital Fibrosis of Extraocular Muscles Type 1 (CFEOM1). Treatment primarily involves surgical interventions to correct the alignment of the eyes and improve function. Management may also include supportive therapies such as vision therapy or the use of corrective lenses.
Repurposable Drugs: There is no widely recognized repurposable drug specifically for the treatment of Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1). Treatment primarily involves surgical and supportive measures to manage symptoms and improve eye movement and alignment. Research into potential pharmaceuticals or genetic therapies is ongoing, but there are currently no approved drugs for repurposing in this specific condition. Always consult with a healthcare provider for the most current treatment options and guidance.
Metabolites: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is primarily a genetic disorder affecting the eye muscles and does not have specific known metabolites directly associated with its pathology. The condition is caused by mutations in the KIF21A gene, which affect the proper function and development of the eye muscles.
Nutraceuticals: There is currently no evidence to suggest that nutraceuticals are effective in treating congenital fibrosis of extraocular muscles type 1 (CFEOM1). CFEOM1 is a genetic disorder characterized by congenital non-progressive ophthalmoplegia and fibrosis of the extraocular muscles. Treatment typically focuses on surgical and non-surgical interventions to manage symptoms and improve eye function.
Peptides: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a genetic disorder affecting eye movement. However, your query "peptides, nan" appears unclear in this context. Could you please clarify or provide more specifics on what you would like to know about peptides in relation to CFEOM1?