Featured family report · Colombia · 2014
A Colombian family with 11 reportedly affected members
A 2014 report documented Latin America’s first genetically confirmed case of Perry syndrome. It described one 56-year-old Colombian woman in detail and recorded ten additional maternal relatives with similar symptoms, for 11 reportedly affected family members in all.
What the report documents
- clinically detailed patient
- 1
- additional relatives in the family history
- 10
- reportedly affected family members in total
- 11
- published follow-up after diaphragm pacing
- 2 years
The reported family history
The paper states that all ten relatives died of respiratory insufficiency, but it gives no individual records, genetic results, ages, or treatment outcomes for them.
- 1mother
- 4maternal uncles
- 2sisters
- 3maternal cousins
The index patient’s published course
Movement, mood, and weight changes
She had a two-year history of parkinsonism, severe depression and anxiety, and a 15-kilogram weight loss over six months. Her movement findings included reduced facial expression, rigidity, and tremor.
Acute breathing deterioration
She was admitted with rapidly worsening respiratory insufficiency. Testing showed dangerous carbon-dioxide retention and supported a central, brain-driven cause of hypoventilation.
Genetic confirmation
Testing identified the DCTN1 change c.211G>A (p.Gly71Arg), also written p.G71R, confirming Perry syndrome in the index patient.
Escalating respiratory support
Noninvasive support had not succeeded. A tracheostomy and mechanical ventilation were required, and attempts to wean her from the ventilator were unsuccessful.
Diaphragm pacing
Her multidisciplinary team implanted a bilateral system that stimulated the phrenic nerves to activate the diaphragm. The procedure had a mild right hemothorax and air under the skin as reported complications.
Two-year report
Felipe Pretelt, Camilo Castañeda Cardona, Pawel Tacik, Owen A. Ross, and Zbigniew K. Wszolek reported a functioning pacer, independence in everyday life, and no acute respiratory-failure episodes during follow-up. Pneumonia still occurred occasionally and was treated with antibiotics.
What the genetic result means
DCTN1 provides instructions for part of the dynactin complex, which helps move materials inside nerve cells. Perry syndrome usually follows an autosomal-dominant pattern. A genetics professional should interpret a specific result and discuss testing choices with each family.
DCTN1 c.211G>A (p.Gly71Arg / p.G71R)
Why the report matters
The case shows that life-threatening breathing failure can dominate the illness even when movement disability is comparatively mild. It also shows how a correct genetic diagnosis can help neurological, respiratory, and surgical teams consider highly specialized support.
What this report cannot tell us
The reported outcome belongs to one patient. It cannot establish the overall safety, effectiveness, cost, or suitability of diaphragm pacing for another person, and it does not make pacing a cure or a standard treatment. Ventilation and pacing decisions require individualized specialist assessment.
Study limitation: Evidence is limited to a two-page report of one treated patient. The ten relatives were identified by family history, not individually evaluated or genetically confirmed in the paper; there was no comparator, formal outcome scale, or economic analysis.