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Case study on a girl with Congenital Disorder of Glycosylation

Case study

by Teodora-Gabriela Fleseru, MD, Pediatric Resident, 1st Pediatric Clinic, Cluj-Napoca and Silaghi Ciprian, Kinesiotherapist at A smile with MIRA, Cluj-Napoca



PMM2-CDG, MPI-CDG , ALG3-CDG, RFT1-CDG,  SSR4-CDG, MOGS-CDG1, no, it’s not a secret code or letters from a crossword as you may think. CDG is a way of living for Timea (14 years old), a young girl from Romania. It is a daily struggle from the moment she wakes up until the goodnight kiss.





CDG (Congenital Disorders of Glycosylation) are a group of inherited, mostly autosomal recessive, multi-system disorders resulting from several genetic defects affecting the glycosylation of proteins2. Glycosylation is the process by which sugar ‘branches’ (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins which have many important functions in our body. Glycosylation involves many different genes, encoding many different proteins such as enzymes. When one of these enzymes is missing it can lead to a variety of symptoms potentially affecting multiple organ systems (neurological deficits, thoracic and spinal deformities, hypotonia, ataxia, severely delayed language and motor development, inability to walk, and an IQ ranging between 40 to 70).

Long story short, both parents of Timea were carrying the recessive gene for CDG Type Ia, so Timea had a 25% risk of being affected, a 50% risk of being an asymptomatic carrier, and a 25% risk of being unaffected and not a carrier. Unfortunately, she is in the first group and is one of the 50.000 children affected by CDG. At the age of 9 months she was not like the other children, she was not able to control her arms, she could not sit without support, and she could not enjoy a game of ”peek-a-boo”. Then there was the first doctor who said ”maybe she is a bit slow, she will be fine”. As time past, she was not getting any better. After 2 years, the results from molecular testing arrived: CDG type Ia.

As the years passed, Timea was still not able to stand and she was completely dependent on her mother. After dozens of treatments without results, she started Kinesiotherapy at the age of 3. While recalling that time, her mother smiles  ”she was very outgoing, she connected with ease with all the Kinesiotherapists, although we were changing them quite often, sometimes because of  money, sometimes because they didn’t have the time for home therapy”.

In July 2015, at the age of 14 , Timea started using  MIRA. It was certainly something new for Timi. It was that big TV screen and even better: she could see herself on TV. Using the MIRA software, she could play games using her arms while siting in the wheelchair. She clearly loved to be Izzy the Bee and gather pollen from all the flowers. Executing shoulder frontal plane rotation, she struggled to land on all the flowers. Sometimes she’s so focused on keeping her balance as best as possible, that she forgets about the flowers. She didn’t get all the points today, as she was tired due to lots of classes and lots of homework. ”But even after a long day at school, I help her eat quickly at home and she knows it’s 4 o’clock already: time for MIRA and Kinesiotherapy,” her mother tells me.


Therapy with MIRA


Our kinesiotherapists did an initial motor evaluation of her posture, tone, strength, balance, coordination, and gross motor skills using clinical observation and specific tests. Our findings revealed general hypotonia with hypermobility in her joints, typical kyphotic posture with rounded back and  protracted shoulders. Coordination and balance tests revealed mild to severe dysmetria and poor ability to maintain balance in a standing position. Strength tests showed: bilateral weakness of hip abductors and hip extensors. Gross motor skills evaluation showed that Timea was able to sit by herself, to move from sitting to a crawling position, to crawl, to attend high kneeling and to maintain this position without assistance. She is also able to attend standing position with support (without support, she can maintain standing for less than 10 seconds) and walks with assistance of a person, held by both of her hands.

We used 3 scales :

  • GMFCS3 – The Gross Motor Function Classification System is a 5-level classification system that describes the gross motor function of children and youth with cerebral palsy on the basis of their self-initiated movement with particular emphasis on sitting, walking, and wheeled mobility. Timea’s score  shows a GMFCS – Level IV (between 12 and 18 years old). This means: the use of methods of mobility that require physical assistance or powered mobility in most settings. Children require adaptive seating for trunk and pelvic control and physical assistance for most transfers. At home, children use floor mobility (roll, creep, or crawl), walk short distances with physical assistance, or use powered mobility. When positioned, children may use a body support walker at home or school. At school, outdoors, and in the community, children are transported in a manual wheelchair or use powered mobility. Limitations in mobility require adaptations to enable participation in physical activities and sports, including physical assistance and/or powered mobility.
  • GMFM -The Gross Motor Function Measure is a clinical tool designed to evaluate change in gross motor function in children with cerebral palsy. In Timea’s case the results demonstrated:

          GMFM Evaluation Results:

D: STANDING 48.71%


  • SARA4 – Scale for the assessment and rating of ataxia.

         SARA Evaluation Results:

ITEM SCORE Timea’s score
GAIT 0-normal walk


8-not able to walk

STANCE 0-normal


8-unable to stand>10 sec

SITTING 0-normal


4-unable to sit>10 sec

SPEECH 0-normal speech


6 -Speech unintelligible / anarthria

FINGER CHASE 0 No dysmetria


4 Unable to perform

5 pointing movements



4 Unable to perform

5 pointing movements

FAST ALTERNATING HAND MOVEMENTS 0 Normal, no irregularities (performs <10s)


4 Unable to complete 10 cycles

1-right hand


2-left hand



4 Unable to perform the task






Therapy with MIRA


Coordination movements or Frenkel’s Exercises6 are the most efficient in ataxia. They are based on the fact that our sensory nervous system plays an important role in the execution of the  movements. The phenomenon of sensation is not only related to skin, but also to muscles, called muscular sense. By this and the sensitive inputs from joints, we are aware of the position of our limbs without the help of vision. We can thus perform movements with greater accuracy and in complete balance. In ataxic patients, like Timea, things are not that easy; stretching a leg, picking an object becomes an interrupted movement. Hence, Frenkel’s exercises are based on learning body movements from zero then repeating them until they become proper. Think about a child’s movements, mostly irregular, but by seeing and repeating them, will be able to master all body movements  in time.

Applying this to Timea, the re-educational training included exercises of the lower limbs from a supine position and also from a sitting position comprised of alternative knee flexion and extension, hip flexion, extension, abduction, adduction, heel to opposite knee, bicycle movements of both legs, strengthening exercises of the abductors from side-lying position and prone position and of the hip extensors from the supine and crawling position; core stability bridges with maintaining the position for 10 seconds, arms near the body, arms on the mat fully flexed, arms flexed at 90 degrees in the air, balance exercises from kneeling, half kneeling with intermittent support, and sit to stand from a chair.

Apart from Frenkel’s method, Timea did exercises from kneeling position, half kneeling with one arm support (arm on the side of the weight-bearing knee) and also from standing position without support, but with the physical therapist assisting and helping her to regain balance. We have observed that she maintains balance in each position for longer periods of time while performing the MIRA exercises compared with classic balance exercises.

Trying to quantify Timi’s progress after 2-3 months of using MIRA and Kinesiotherapy is certainly not easy. Analysis of the results show, so far, her evolution is stationary. Given the prognosis regarding her neurological and musculo-skeletal condition, she has managed to improve her balance in certain positions and she can better hold a glass of water, she can now stand up with minimal assistance. Beyond this, whether playing as Izzy the Bee trying to pick up flowers or The Submarine searching for treasures, Timea has improved her ability to focus and her willpower. ”She’s like a CD, you just have to burn files on it, day after day, with patience and confidence”, says her mother while tying Timi’s shoes.



  1. Sparks SE, Krasnewich DM. PMM2-CDG (CDG-Ia) 2005 Aug 15 [Updated 2011 Apr 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1110/
  2. http://adc.bmj.com/content/85/3/236.full
  3. http://disabilitymeasures.org/gmfcs/
  4. http://www.ataxia-study-group.net/html/about/ataxiascales/sara/SARA.pdf
  5. http://disabilitymeasures.org/gmfcs/
  6. https://archive.org/stream/jstor-3403902/3403902#page/n0/mode/2up


About the authors

Ciprian Silaghi PT. Bachelor’s degree in Physical Therapy obtained in 2004 (specialized in paediatrics) after 4 years of study at the Faculty of Physical Education and Sports and a Masters Degree in Inclusive Education at the Faculty of Psychology and Education Sciences at Babeș Bolyai University (Cluj-Napoca, Romania). Over 7 years of experience working with children with neurologic disorders and developmental disabilities, from 0 to 18 years old. Proficient in the used of conventional physical therapy principles and having worked alongside an occupational therapist from the USA, specialized in sensory integration. Certified in Schroth therapy (August 2015), a three dimensional approach for the rehabilitation of scoliosis and commenced training in Vojta therapy (January 2016), a reflex locomotion technique.


Teodora-Gabriela Fleseru, MD, Pediatric Resident, 1st Pediatric Clinic, Cluj-Napoca

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