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Perry Syndrome - Causes, Symptoms, and Treatment

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Perry syndrome is also known as dynactin-1 (DCTN1) related Parkinson-plus disorder. It is a rare genetic disorder affecting only 50 people in the world so far.

Written by

Dr. Kirti Maan

Medically reviewed by

Dr. Abhishek Juneja

Published At October 17, 2022
Reviewed AtJune 13, 2023

Perry syndrome is a very rare genetically inherited and neurologically degenerative disorder that is marked by four major features, swiftly escalating early-onset parkinsonism, weight loss, central hypoventilation (slow breathing), insomnia, and depression. The characteristic signs and symptoms of perry syndrome appear around the early forties to late fifties.

  • The initial stage of perry syndrome consists of parkinsonism and psychiatric symptoms.

  • The signs of parkinsonism include atypical bradykinesia (slow or retarded movements), stiffness, and tremors of the extremities.

  • In addition, there is a drastic change in the personality and behavior of the patient.

  • The most significant psychiatric change observed in the patient with perry syndrome is depression.

  • Depression in perry syndrome occurs as a general loss of interest and enthusiasm towards life or curricular activities; the individual shows a strong withdrawal sign from family and friends along with suicidal tendencies.

  • With the progression of the syndrome, unexplained atypical weight loss and hypoventilation, which is slow breathing without a cause, are commonly observed.

  • Hypoventilation is commonly observed at night, causing an individual to have disrupted sleep, leading to sleep deprivation and sleeping disorders.

  • Most individuals suffering from perry syndrome die due to respiratory failure or pneumonia.

  • Often worsened symptoms include depression, and suicide is another major cause of death in the condition.

As the severity of the symptoms increases and the syndrome worsens, perry syndrome can be a life-threatening fatal disorder, as lack of oxygen can lead to respiratory failure and ultimately death. Once the syndrome is diagnosed or detected, it takes approximately five years for the syndrome to worsen.

What Causes Perry Syndrome?

Perry disease is a hereditary disease with a genetically dominant behavior. It is characterized by parkinsonism, mental illnesses, unexplained weight loss, and a tendency to breathe shallow (central hypoventilation), causing decreased blood saturation level. The main cause of perry syndrome is known to be either the missing or the defective gene on chromosome number 15. However, certain mutations of the dynactin DCTN1 gene have proven to cause perry syndrome. DCTN1 gene is responsible for providing the instructions for the production of a protein called dynactin-1. Mutation in the gene after its binding affinity with dynactin protein is affected; it then leads to impairment of the important transport protein. Nigral neurons (these are autonomous pacemakers, they are responsible for sustained release of dopamine into the brain) are affected by mutation in the gene, causing dysfunctional protein, leading to an increased amount of cell death which are the cause of the distinctive features of the perry syndrome. The distinctive features are the psychiatry symptoms, which are caused due to the death of neurons, a large number of neurons die, and they help regulate the movement, emotions, and breathing which disrupts and ultimately presents itself as the signs and symptoms of perry syndrome.

What Are the Clinical Features of Perry Syndrome?

As stated above, perry syndrome has four major flags:

  • Parkinsonism: Early onset and progressive in nature. Characteristic signs seen are rigidity and tremors of the legs and arms. Bradykinesia (slowness of movement) and postural instability (due to loss of balance and concentration).

  • Hypoventilation: The individual suffers from respiratory compromise and sleep apnoea (a life-threatening condition).

  • Psychiatric Change or Symptoms: Elevated and extremely low levels of mood. Depression is accompanied by apathy.

  • Weight Loss: Weight loss in an individual is drastic and unexplained. It is unintentional and progressive in nature, as it can be due to side effects of medications or psychiatric changes leading to low appetite and ultimately loss of weight.

In addition to the four major flags of the perry syndrome, certain other physical symptoms of the disorder are:

  • Frontal Signs: These are the signs descriptive of any disorders affecting the frontal lobe of the brain.

  • Oculomotor Disorders or Dysfunction: Common vision problems that occur due to trauma to the brain, disease, or a developmental delay in the brain.

  • Dysphagia: Difficulty in swallowing.

  • Dementia: A disorder wherein memories, thinking ability, and social abilities are disrupted.

  • Autonomic Dysfunction: A disorder of the nerves that regulate non-voluntary body functions, such as heart rate, blood pressure, and sweating.

What Is the Treatment of Perry Syndrome?

There is no set cure or treatment for perry syndrome. Symptomatic treatment of perry syndrome is available, though. The main symptoms of perry syndrome have treatment options.

  • Parkinson’s Disease or Parkinsonism: Dopamine therapy is available to treat symptoms of parkinsonism occurring during the perry syndrome. Often using Levodopa or carbidopa therapy is useful too. In the majority of cases, responses to Levodopa were insignificant with small doses; however, increasing the dosage and adjusting it as required tends to change the responsive state of the symptom and the disorder.

  • Hypoventilation: Patients suffering from perry syndrome require oxygen therapy or a ventilator to support them. Ventilators used can be invasive or non-invasive, especially during the night. Oxygen saturation along with respiratory rate and respiratory functions should be monitored around the clock. In cases of sleep apnoea, oxygen therapy such as CPAP (continuous positive airway pressure) and BiPAP (bi-level positive airway pressure) should be used.

  • Psychiatric Changes: In the case of psychiatric changes such as depression and apathy, antidepressants, antianxiety, and psychotherapy should be employed. These therapies help with managing the symptoms and reduce the risk of suicide.

Conclusion:

Perry syndrome is progressively rapid and hard to detect. The prognosis of perry syndrome is poor. Perry syndrome is a rare but fatal disorder, which often ends up in the death of the individual due to respiratory insufficiency (hypoventilation) or suicide (depression). Symptomatic treatment has proven to be effective and can prolong life approximately by two to three years.

With only 50 known cases of the syndrome, there is literature and research available; however, even with the limited number of cases, a certain treatment plan has proven to be effective enough to prolong the life of the individual (although temporarily).

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Dr. Abhishek Juneja
Dr. Abhishek Juneja

Neurology

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