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Congenital muscular dystrophy in Jordanian children
1Department of Pediatrics, Jordan University Hospital, Amman.
Insights
Congenital muscular dystrophy (CMD) is more prevalent in communities with high parental consanguinity. This study highlights CMD
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Muscular dystrophies are a group of inherited muscle-wasting diseases.
- Congenital muscular dystrophy (CMD) presents at birth or in early infancy.
- Understanding the epidemiology and risk factors for CMD is crucial for diagnosis and management.
Purpose of the Study:
- To investigate the prevalence and characteristics of congenital muscular dystrophy (CMD) in Jordan.
- To explore the association between parental consanguinity and CMD.
- To compare CMD with other muscular dystrophies in the studied population.
Main Methods:
- A consecutive case series study was conducted at Jordan University Hospital from January 1990 to February 1997.
- Patient diagnoses were reviewed, categorizing muscular dystrophy subtypes.
- Data on age of onset, cognitive milestones, parental consanguinity, and family history were collected.
Main Results:
- Congenital muscular dystrophy (CMD) accounted for 50.9% of muscular dystrophy cases (28/55).
- The majority of CMD cases (92.9%) had symptom onset antenatally or within the first few months.
- High rates of parental consanguinity (75%) and family history (53.6%) were observed in CMD patients.
Conclusions:
- Congenital muscular dystrophy (CMD) appears more common in populations with high parental consanguinity compared to other muscular dystrophies.
- Early symptom onset is characteristic of CMD.
- Findings support recent literature linking CMD prevalence to consanguinity rates.
Abstract:
This is a consecutive study on 28 patients who have been diagnosed as having congenital muscular dystrophy at Jordan University Hospital in the period from January 1990 to February 1997. Of 75 patients diagnosed as having muscle disease, 55 (73.3%) had muscular dystrophy. Of 55 muscular dystrophy patients, 28 (50.9%) had congenital muscular dystrophy, 11 (20%) had Duchenne muscular dystrophy, 9 (16.4%) had Becker muscular dystrophy, 4 (7.3%) had myotonic dystrophy, 2 (3.6%) had limb-girdle dystrophy, and 1 (1.8%) patient had facioscapulohumeral dystrophy. Age of onset of symptoms of congenital muscular dystrophy (hypotonia and weakness) was documented antenatally or in the first few months in the majority (92.9%) of patients. Parental consanguinity was documented in 21 (75%) of congenital muscular dystrophy cases, and family history of possible similar cases in 15 (53.6%). Congenital muscular dystrophy patients with normal cognitive milestones (n = 16; 57.1%) were slightly more common than patients with cognitive delay. In contrast to previous reports, congenital muscular dystrophy is probably more common in communities with high rates of parental consanguinity than other dystrophies. Our study adds significant support to the most recent literature on this finding.