Skip to content

PMM2-CDG Quality of Life Survey
for Medical Experts

Before starting the survey, read the following information and instructions carefully



Why PMM2-CDG?

1) PMM2-CDG is characterized by a huge array of symptoms, often affecting multiple body
systems, influencing PMM2-CDG patients' quality of life (QoL).
2) There are no specific tool to measure QoL in any CDG type.
3) PMM2-CDG is the most frequent CDG type and, thus it can be used as a pilot.


AIM: This short survey aims to identify the clinical manifestations and factors that most affect PMM2-CDG patients' QoL.


Why You and how can you help?

Because you are a CDG clinical specialist and your experience and vision are extremely valuable.
Remember to answer this anonymous survey focusing on the wide PMM2-CDG community and not only on the PMM2-CDG patients you follow directly.


Time commitment: The questionnaire has 4 QUESTIONS and takes a maximum of 10 to 15 minutes to complete.

ATTENTION: Each of the 4 questions refers to a specific age range, which corresponds to a
different phase of development (infancy, childhood, adolescence and adulthood)


If you have any doubts, please contact the research team: Carlota Pascoal | E-mail: cm.pascoal@campus.fct.unl.pt
1.In PMM2-CDG patients aged between 0 MONTHS TO 3 YEARS-OLD (infancy), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/canno answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy 
Ataxia 
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion 
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia 
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia
Kyphosis/Scoliosis 
Joint contractures
Hypotonia 
Developmental delay
Dysarthria/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia 
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
2.In PMM2-CDG patients aged between 4 TO 10 YEARS-OLD (childhood), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy
Ataxia 
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion 
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia (trouble swallowing)
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia 
Kyphosis/Scoliosis 
Joint contractures
Hypotonia 
Developmental delay
Dysarthria /speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia 
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
3.In PMM2-CDG patients aged between 11 TO 18 YEARS-OLD (adolescence), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy 
Ataxia 
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion 
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia 
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia 
Kyphosis/Scoliosis 
Joint contractures
Hypotonia 
Developmental delay
Dysarthria/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
4.In PMM2-CDG patients aged from 18 YEARS-OLD onwards (adulthood), rate the impact of the following clinical manifestations on the patient's quality of life? You MUST select 1 OPTION per row.
No impact
Slight negative impact
Moderate negative impact
Negative impact
Extremely negative impact
I don't know/cannot answer
Stroke-like episodes
Seizures (epilepsy)
Peripheral neuropathy 
Ataxia 
Ophtalmologic problems (strabismus, retinitis pigmentosa, nystagmus)
Pericardial effusion 
Cardiomyopathy
Liver cirrhosis/failure
Other liver problems (hepatomegaly, liver fibrosis, steatosis)
Dysphagia 
Feeding tube
Diarrhea
Vomiting
Other feeding problems (gatroparesis, food allergies/intolerance, etc)
Renal problems (cysts, nephrotic syndrome, proximal tubulopathy)
Osteopenia 
Kyphosis/Scoliosis
Joint contractures
Hypotonia 
Developmental delay
Dysarthria/speech delay
Intellectual disability
Behavioural problems (e.g. mood swings, autistic features)
Sleep disturbances
Infections
Sex development deficiencies (e.g. hypogonadism, infertility)
Coagulation problems (thrombosis/coagulopathy)
Hyperinsulinemic hypoglicemia 
Overheating episodes
Lack of sweating
Biochemical/cellular abnormalities (e.g. proteinuria, elevated transaminases, anemia)
Thank you for investing your time and expertise in driving CDG research!

Current Progress,
0 of 4 answered