What are the other Names for this Condition? (Also known as/Synonyms)

• Distal Myopathy with Vocal Cord and Pharyngeal Weakness

What is Distal Myopathy with Vocal Cord Weakness? (Definition/Background Information)

• Distal Myopathy with Vocal Cord Weakness (and pharyngeal) weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction

(Source: Distal Myopathy with Vocal Cord Weakness; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Distal Myopathy with Vocal Cord Weakness? (Age and Sex Distribution)

• Distal Myopathy with Vocal Cord Weakness is a rare disorder. The onset of symptoms is noted in adulthood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Distal Myopathy with Vocal Cord Weakness? (Predisposing Factors)

• A positive family history may be an important risk factor, since Distal Myopathy with Vocal Cord Weakness can be inherited

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Distal Myopathy with Vocal Cord Weakness? (Etiology)

• Distal Myopathy with Vocal Cord Weakness is believed to be caused by mutation(s) in MATR3 gene 
• The disorder is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Distal Myopathy with Vocal Cord Weakness?

The signs and symptoms of Distal Myopathy with Vocal Cord Weakness vary, but may include:

• Dementia            
• Distal sensory impairment                           
• Abnormal lower motor neuron morphology        
• Abnormal upper motor neuron morphology       
• Abnormality of the nasopharynx                              
• Amyotrophic lateral sclerosis      
• Aspiration                           
• Bowing of the vocal cords            
• Bulbar palsy
• Bulbar signs
• Decreased nerve conduction velocity
• Distal muscle weakness
• Dysarthria
• Dysphagia
• Elevated serum creatine phosphokinase               
• Hoarse voice
• Hyperreflexia
• Respiratory insufficiency due to muscle weakness
• Rimmed vacuoles
• Shoulder girdle muscle weakness

(Source: Distal Myopathy with Vocal Cord Weakness; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Distal Myopathy with Vocal Cord Weakness Diagnosed?

Distal Myopathy with Vocal Cord Weakness is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Distal Myopathy with Vocal Cord Weakness?

The complications of Distal Myopathy with Vocal Cord Weakness may include:

• Inability to life fingers placed on a surface
• Inability to life toes while walking
• Unnatural gait
• Progressive muscle weakness causing problems with walking
• Limitations on strenuous physical activity 
• Negative effects on proximal muscle groups
• Increasing hoarseness of voice (wet, gurgling quality)
• Difficulty with swallowing or gargling

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Distal Myopathy with Vocal Cord Weakness Treated?

There is no cure for Distal Myopathy with Vocal Cord Weakness, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

The treatment options may include:

• Physiotherapy to improve muscle strength
• Use of leg braces to improve mobility
• Use of wheel chair for mobility

How can Distal Myopathy with Vocal Cord Weakness be Prevented?

Distal Myopathy with Vocal Cord Weakness may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Distal Myopathy with Vocal Cord Weakness? (Outcomes/Resolutions)

• The prognosis of Distal Myopathy with Vocal Cord Weakness is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Distal Myopathy with Vocal Cord Weakness:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/