Spastic Paraplegia 47

Spastic paraplegia 47 is a slowly-progressing neurodegenerative disorder that normally provides with global developmental delay, modest to extreme intellectual special needs, impaired/absent speech, small head size, seizures, and progressive motor symptoms. Most children with SPG47 have: a drooping look in early stage due to low muscle tone; increasing spasticity and paralysis in the lower limbs starting in early childhood years; intellectual impairment; microcephaly; delayed motor growth; lacking or inadequate speech growth. Some children may have facial differences that can consist of: high palate; broad nasal bridge; bulbous nose; wide mouth; protruding tongue; brief philtrum; narrow temple; level feet or club feet.

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