Roigs study congenital myotonic dystrophy

ROIGS STUDY

This is one of the few studies that gives long term social information about CMD. It contains some information that can not be found in other studies. This study focuses on long term outcomes. The Principal investigator was Dr. Roig and the Study was performed in a hospital in Barcelona, Spain. It is published in Pediatric Neurology Vol. 11 No 3 Pg. 208-212 It is somewhat technical but if you have a chance get a copy.

Summary:

“We report the clinical experience of 18 patients with the congenital form of myotonic dystrophy, the majority of whom were diagnosed and monitored from 5-14 years. Prematurity associated with congenital myotonic dystrophy gives rise to the severest clinical manifestations. Among them, respiratory involvement is common and is the leading cause of death in the neonatal period. Weakness and foot deformities secondary to muscle involvement are the predominant clinical features
of this group of patients from birth to 3-4 years. Once muscle strength improves learning disabilities and behavioral disturbances become the main clinical problems. All our patients, when tested after 5 years of age had intelligent quotients under 65, clearly below the Intelligent Quotation of their mothers (IQ=80). There is no relationship between the degree of the mothers and the patients disease. No
patient presented problems with routine immunizations, and no complications were observed in the 7 patients who underwent surgery under general anesthesia. Among surviving patients no correlation can be established between severity of the disease in the neonatal period and the magnitude of sequelae as teenagers. Mental and Behavioral disturbances are the factors which mainly influence the long-term
management and prognosis of this cohort of individuals.

Summary of Data

Table 1 Maternal and Gestational Data

Maternal Data (Information about mother)
Suggestive Phenotype 12/14 (12 of 14 were affected)
Myotonia 14/14
EMG myotonic discharges 13/13
IQ<80 6/8

Gestational Data (Information during Pregnancy)
Miscarriage or perinatal Deaths 2/14
Polyhydraminos 7/14
Decreased Fetal movements 6/7
Preterm Delivery <37 weeks 2/18
Postterm Delivery >42 weeks 3/18
Difficult Delivery/Cesarean Section 12/18
Apgar Score <6 at 1 minute 9/18
Apgar Score <6 at 5 minutes 2/18

Table 2 Neonatal Period Data (After the baby is born)

Hypotonia 18/18
Facial Weakness 15/18
Respiratory Distress 12/18
Mechanical Ventilation 5/18
Feeding problems 9/18
Skeleton Deformities 16/18
Pathological Fractures 3/18
Thin Ribs 12/18
Elevated Diaphragm 4/18-45.06%

Table 3 Clinical Follow-up Data (Longer term information)

Deaths 3/18
Loss of Follow-up 5/18
Facial Diplegia 7/10
Hypotonia 10/10
Delayed Motor Development 10/10
Myotonia 6/10
Persistent Skeletal Deformities 7/10
Strabismus (Squinting) 4/10
Cataracts 1/10
Surgery 7/10
Complications from Surgery 0/7
IQ < 65 8/8
Language Delay 10/10