Rare Pulmonology News

Disease Profile

Congenital laryngeal palsy

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

J38.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital vocal cord paralysis

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Nervous System Diseases

Summary

Congenital laryngeal palsy is also known as congenital vocal cord paralysis. It represents 15%-20% of all cases of congenital anomalies of the larynx. It may affect one (unilateral) or both (bilateral) vocal cords. The cause of bilateral paralysis of the vocal cords is often unknown (idiopathic). In some cases, paralysis may be secondary to the immaturity of the nerve or muscle (neuromuscular) or due to central nervous system damage (including the Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, hypoxia (lack of oxygen in the blood), or bleeding). Birth trauma that causes excessive tension in the neck can cause transient bilateral vocal cord paralysis that can last 6-9 months. Unilateral paralysis is usually idiopathic but can be secondary to problems with the vagus nerve or recurrent laryngeal nerve trauma. The signs and symptoms of bilateral vocal fold paralysis may include making a noise when breathing (inspiratory stridor) that worsens upon exercise, progressive obstruction of the respiratory airway, aspiration, recurrent chest infections, cyanosis, nose flaring and signs of cranial nerve deficits during the head and neck exam. Flexible endoscopy can be used to diagnose the condition. Treatment may include medication, surgery, and speech therapy.[1][2][3][4]

Symptoms

The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis:

National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis
Medscape Reference Congenital Malformations of the Larynx

Cause

The cause is often unknown (idiopathic). Congenital bilateral vocal cord paralysis may occur as a result of the immaturity of the nerve or muscle (neuromuscular) or as a result of central nervous system problems, such as Arnold-Chiari syndrome, cerebral palsy, hydrocephalus, myelomeningocele, spine bifida, hypoxia (lack of oxygen in the blood), or bleeding.[1][2][3] In other cases the vocal cords' paralysis is acquired. For example, a birth trauma may cause tension in the neck and lead to bilateral vocal cord paralyses that can last 6-9 months. Other causes may include:[1][2]

• Surgical Trauma
• Malignancies
• Delayed endotracheal intubation
• Neurological diseases
• Strokes
• Choking
• Diseases that result in inflammation of the vocal cords or the laryngeal cartilage (Wegener's granulomatosis, sarcoidosis or polychondritis, gout, syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords)
• Diabetes mellitus, which may lead to a neuropathy resulting in vocal cord paralysis
• Gastroesophageal reflux (GER).

The unilateral paralysis is usually idiopathic but may also be secondary to mediastinal lesions, such as tumors or vascular malformations or iatrogenic (caused by damage to the left recurrent laryngeal nerve during surgery in this area, such as heart surgery). It may also result from problems of the mechanical structures of the larynx as the cricoarytenoid joint.[4]

The following online resources provide more information on the cause of congenital laryngeal paralysis:

American Academy of Otolaringology
Medscape Reference Congenital Malformations of the Larynx

Diagnosis

Treatment

The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a speech-language pathologist may be needed for voice therapy, which may involve exercises to strengthen the vocal folds or improve breath control while speaking. Patients may also learn how to use the voice differently, for example, by speaking more slowly or opening the mouth wider when speaking. Treatment may include:[2][3]

  • Corticosteroids: When there is an associated disease such as Wegener's granulomatosis, sarcoidosis or polychondritis.
  • Medical treatment of the disease that lead to an inflammation of the cricoarytenoid joint ( gout) or the laryngeal mucosa such as syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) to improve breathing.
  • Diabetes treatment: Can help to improve a neuropathy of the vocal cords caused by the diabetes mellitus.
  • Treatment of reflux: When the condition is caused by the gastroesophageal reflux.
  • Treatment of the eventual scarring of the arytenoid cartilages.

Several surgical procedures depending on whether one or both of the vocal cords are paralyzed. The most common procedures change the position of the vocal fold. These may involve inserting a structural implant or stitches to reposition the laryngeal cartilage and bring the vocal folds closer together. These procedures usually result in a stronger voice. Surgery is followed by additional voice therapy to help fine-tune the voice:

• Functional procedures as microflap, laryngectomy (similar to tracheostomy) with subsequent cricoidotomia (removal of the cricoid cartilage) and cartilage graft and stent (or stent placement only) or reconstruction of the local mucosa with scar removal.
• Tracheotomy: May be required to help breathing. In a tracheotomy, an incision is made in the front of the neck and a breathing tube is inserted through an opening, called a stoma, into the trachea. Rather than occurring through the nose and mouth, breathing now happens through the tube. Following surgery, therapy with a speech-language pathologist helps you learn how to use the voice and how to properly care for the breathing tube
• Permanent treatments with removal of the vocal cords (unilateral or bilateral) or the arytenoid cartilage (endoscopic or external, partial or complete) or changing the position of the vocal cords.

Other treatment may include:[2]

• Reinnervation techniques (experimental)
• Electrical stimulation (experimental).

Most cases of unilateral vocal cord paralysis do not need any treatment. Adopting a vertical position is sometimes enough to relieve breathing problems but in some patients it may require an intubation.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Common Problems That Can Affect Your Voice. American Academy of Otolaringology – Head and Neck Surgery. https://www.entnet.org/content/common-problems-can-affect-your-voice. Accessed 8/4/2015.
        2. Emster JA. Bilateral Vocal Fold Paralysis. Medscape Reference. September 2, 2014; https://emedicine.medscape.com/article/863885-overview. Accessed 8/4/2015.
        3. Caroll TL. Unilateral Vocal Fold Paralysis. Medscape Reference. March 29, 2014; https://emedicine.medscape.com/article/863779-overview. Accessed 8/4/2015.
        4. Tewfik TL. Congenital Malformations of the Larynx. Mescape Reference. April 20, 2015; https://www.nidcd.nih.gov/health/spanish/Pages/Vocal-Fold-Paralysis-Spanish.aspx. Accessed 8/4/2015.

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