BridgeMar Syndrome
A novel infantile spinal muscular atrophy phenotype with additional features
BridgeMar Syndrome is a unique and severe neurodegenerative disorder first observed in affected sisters by Dr. John Optiz. The purpose of this web page is to help increase awareness of this disorder in the hope of determining whether there are other families who may have similarly affected children. We hope that identifying additional cases will help clarify the cause of this devastating disorder.
Key clinical characteristics:
- congenital microcephaly (small head size at birth) with evidence of subsequent poor brain growth and progressive atrophy)
- leukodystrophy (paucity of central brain myelin with progressive myelin loss)
- progressive neuromuscular weakness evolving in early infancy, resulting in lower extremity paralysis (severe weakness progressing to complete leg paralysis)
- intercostal weakness (weakness of the respiratory muscles)
- bulbar dysfunction (loss of ability to protect the airway with feeding) and tongue fasiculations (indicating involving of nerve cells innervating the tongue)
- autonomic dysregulation:
- ptosis (droopy eyelids)
- bowel dysmotility (abnormal movement of food through the stomach, small and large intestines, with bowel distention, poor gastric emptying and constipation)
- gastroesophageal reflux (reflux of stomach contents into the esophagus, increasing risk for aspiration into the lungs)
- vascular instability (poor blood flow manifest by cool extremities, color changed involving the extremities and trunk, skin mottling)
- abnormal sweating
- temperature dysregulation (difficulty controlling body temperature)
- apneic episodes (sudden spells in which the baby stops breathing)
- cataracts: posterior subcapsular cataracts, in one case congenital, and in the other developing within the first few months of life
Additional features:
- Sensorineural deafness
- Abnormal visual behavior consistent with cortical visual impairment
- Global neurodevelopmental impairment
- Partial agenesis of the corpus callosum
- Scoliosis, in one case associated with thoracic hemivertebrae
- Neurogenic bladder
- 11 pairs of ribs
- Recurrent rigors, high fevers of uncertain etiology up to 106o Fahrenheit
- Early in the clinical course, spasticity may be present in the setting of absence of deep tendon reflexes