The purpose of this study is to learn more about the disease progression in patients with a TECPR2 mutation.

A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the cellular process of autophagy resulting in neuronal cell death. This disruption leads to a form of spastic paraplegia with the additional disruption to involuntary body processes, such as respiration and thermoregulation. This study will provide valuable information about the natural progression of children with a TECPR2 mutation.

Inclusion Criteria:

• Written informed consent (and assent where appropriate) before any study procedures take place;
• Male or female;
• 18 months to 12 years old, at enrollment; and
• Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR genetic mutation analysis, AND demonstrate clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.

Exclusion Criteria:

• Subject is unable to comply with study requirements; or
• Have any other concurrent condition that, in the opinion of the investigator, would make the subject unsuitable for the study.

Children with TECPR2-Related disorder, confirmed by genetic mutation analysis and demonstrates clinical findings such as autophagy, developmental delay, hypotonia, or other positive findings.