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

• Spastic Paraplegia, Bilateral Sensorineural Deafness, Intellectual Retardation, and Progressive Nephropathy
• Spastic Paraplegia-Nephritis-Deafness Syndrome

What is Fitzsimmons Walson Mellor Syndrome? (Definition/Background Information)

• Fitzsimmons Walson Mellor Syndrome, also known as Spastic Paraplegia-Nephritis-Deafness Syndrome, is characterized by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy
• Inheritance is likely to be autosomal dominant

(Source: Spastic paraplegia-nephritis-deafness syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Fitzsimmons Walson Mellor Syndrome? (Age and Sex Distribution)

• Fitzsimmons Walson Mellor Syndrome is a very rare congenital disorder that has been described in 6 individuals belonging to a single family
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Fitzsimmons Walson Mellor Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Fitzsimmons Walson Mellor Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for the syndrome

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 Fitzsimmons Walson Mellor Syndrome? (Etiology)

• At the present time, the genetic cause of Fitzsimmons Walson Mellor Syndrome is not known
• The condition is likely 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 Fitzsimmons Walson Mellor Syndrome?

The signs and symptoms of Fitzsimmons Walson Mellor Syndrome may include:

• Bilateral sensorineural hearing impairment
• Focal segmental glomerulosclerosis
• IgA deposition in the glomerulus
• Intellectual disability

(Source: Fitzsimmons Walson Mellor Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Fitzsimmons Walson Mellor Syndrome Diagnosed?

Fitzsimmons Walson Mellor Syndrome 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 Fitzsimmons Walson Mellor Syndrome?

The complications of Fitzsimmons Walson Mellor Syndrome may include:

• Permanent hearing loss
• Chronic kidney disease, which may lead to kidney failure and end-stage kidney disease

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

How is Fitzsimmons Walson Mellor Syndrome Treated?

There is no cure for Fitzsimmons Walson Mellor Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Fitzsimmons Walson Mellor Syndrome be Prevented?

Currently, Fitzsimmons Walson Mellor Syndrome 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 Fitzsimmons Walson Mellor Syndrome? (Outcomes/Resolutions)

• The prognosis of Fitzsimmons Walson Mellor Syndrome 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 Fitzsimmons Walson Mellor Syndrome:

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

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