Flynn Aird Syndrome

Definition

Definition of Flynn Aird Syndrome
Flynn-Aird Syndrome is a rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. The syndrome involves defects in the nervous, auditory, skeletal, visual, and endocrine systems and encompasses numerous symptoms, bearing striking similarity to other known syndromes of neuroectodermal nature such as: Werner syndrome, Cockayne syndrome and Refsum syndrome.

Symptoms

Symptoms of Flynn Aird Syndrome
Individuals with this syndrome typically develop normally until reaching the second decade of their lives but the onset of symptoms has been observed as early as age seven. The first defect observed in individuals who suffer from this condition affects the auditory system and is known as bilateral nerve deafness. Another early symptom is the development of myopia (nearsightedness). In addition to bilateral nerve deafness and myopia, other symptoms that plague infected individuals early in disease progression include ataxia, muscle wasting, severe peripheral neuritic pain sometimes accompanied by elevated spinal fluid protein, and joint stiffness.

The central nervous system (CNS) is affected with deficits in the cerebral cortex which indicate signs of mental retardation even though psychological observations appear relatively normal for individuals studied. Atypical epilepsy is also a common feature of CNS malfunctioning including aphasia expressions, blurred vision, and numbness of the face and limbs.

Causes

Causes of Flynn Aird Syndrome
One family of 68 individuals over 5 generations was studied and the prevalence of disease among the family members suggests that it is indicative of dominant inheritance that is not sexually linked. This is supported by the fact that the disease failed to skip generations even in the absence of intermarriages and that disease incidence was independent of sex. The current findings suggest that the cause of the disease could be narrowed down to one enzymatic defect that is involved in the development of neuroectodermal tissue, however the exact molecular mechanisms are currently unknown. The other symptoms that arise such as bone defects and diabetes may be secondary to this enzymatic defect.

Diagnosis

Diagnosis of Flynn Aird Syndrome
Caloric testing and audiogram are conducted to check deafness and tinnitus. To check for possible nerve damage, MRI or CT scans are made to check for the possibility of other complications. If there is a suspicion of multiple sclerosis, MRI can prove to be highly useful. For ataxia, a psychometric testing may be done to derive a more definitive examination.

Prognosis

Prognosis of Flynn Aird Syndrome
Consult with your doctor.

Treatment

Treatment of Flynn Aird Syndrome
Majority of the treatments available for Flynn-Aird syndrome are typically supportive in nature. Steroids along with IVIG or ACTH may be administered. Approaches may also differ depending on the symptoms involved and treatments are usually presented to alleviate or manage the symptoms.

Prevention

Prevention of Flynn Aird Syndrome
Consult with your doctor.