Hereditary spastic paraplegia 39
Hereditary spastic paraplegia 39
Definition
This syndrome is characterized by progressive spastic paraplegia and distal muscle wasting.
Also known as autosomal recessive spastic paraplegia type 39, hereditary spastic paraplegia caused by mutation in PNPLA6, hereditary spastic paraplegia type 39, NTE-related motor neuron disorder, NTEMND, PNPLA6 hereditary spastic paraplegia, spastic paraplegia due to neuropathy target esterase mutation, spastic paraplegia due to NTE mutation, SPG39 — per MONDO