This hereditary condition has recently been reported in 4 unrelated individuals. It is a progressive degenerative disorder of brain and nervous system tissue.
This disorder of the nervous system has a variable time of onset and of progression of signs. Several infants have presented with small heads (microcephaly) and delayed motor (movements) development. All patients by the second decade have severe impairment of movement and may never walk. Speech is usually slurred and swallowing difficulties are present. Degeneration of the optic nerve (atrophy) that carries visual signals to the brain results in severe vision loss. Some patients have a progressive loss of hearing. Balance problems (ataxia) are common and irregular movements of the limbs are often seen. Short stature has been reported in older individuals.
MRIs of the brain reveal widespread degeneration of various structures in the brain.
This is an autosomal recessive disorder resulting from changes (mutations) in both members of a specific gene pair. The parents are neurologically normal but each one likely carries a change in a single member of the gene pair. Offspring of two such parents have a 25% risk of inheriting mutations in both members of the gene pair.
The diagnosis of this condition requires study of DNA. The signs at birth and during infancy are too nonspecific to be useful beyond the diagnosis of a progressive degenerating neurological disorder. Treatment and care of patients requires a multidisciplinary team of pediatricians, neurologists, and therapists to promote growth and development.
No treatment for the specific disease has been reported. Based on the limited number of reported patients longevity seems to be shortened.