The condition is very rare. Not a lot is known about the disease. We are working with researches to ask the right questions before getting to answers.
Sedaghatian type Spondylometaphyseal Dysplasia (SSMD) is an extremely rare progressive disorder.
The disease is congenital and majority of patients die in the first days after birth due to respiratory distress.
We know of four kids (3 male, 1 female) living with this condition.
All babies lack head control, cannot sit unsupported, cannot walk, have feeding difficulties, and significantly delayed physical and cognitive development.
The oldest kid developed intractable seizures at the age of 3 and continues to be on anticonvulsants to reduce breakthrough seizures.
The long bones (metaphyses) show cupping/flaring with flattening of the vertebrae (platyspondyly)
Cardiac arrhythmia
Central nervous system abnormalities including hypogenesis of corpus callosum and cerebellar hypoplasia.
There are no treatments available as of today. Antioxidants such as Vitamin E, N-Acetyl-Cysteine, Co-Enzyme Q10 have been shown to be effective in experiments, but none of those cross the blood brain barrier.