Autosomal spastic paraplegia type 72

Autosomal spastic paraplegia type 72 (SPG72) is a very rare inherited neurological condition that primarily affects the nerves controlling leg movement. It belongs to a group of disorders called hereditary spastic paraplegias (HSPs), which are characterized by progressive stiffness (spasticity) and weakness in the legs. SPG72 is caused by mutations in the REEP2 gene, which plays a role in shaping a part of the cell called the endoplasmic reticulum — a structure important for many cell functions, especially in nerve cells. People with SPG72 typically develop difficulty walking due to increasing stiffness and weakness in the lower limbs. The condition can begin in childhood or later in life, depending on the specific genetic change and whether one or two copies of the gene are affected. Some individuals may also experience reduced sensation in the feet or other mild neurological symptoms. The upper body is usually much less affected than the legs. There is currently no cure for SPG72. Treatment focuses on managing symptoms and maintaining mobility for as long as possible. This includes physical therapy, stretching exercises, medications to reduce muscle stiffness (such as baclofen or tizanidine), and assistive devices like braces or walkers when needed. Regular follow-up with a neurologist is important to monitor progression and adjust the treatment plan over time.

Bring these to your next appointment

• Q1.Is my form of SPG72 inherited in a dominant or recessive pattern, and what does that mean for my family?,How quickly is this condition likely to progress in my case?,What physical therapy program would be most helpful for me?,Are there medications that could help with my leg stiffness and spasms?,Should my family members be tested for the REEP2 gene mutation?,Are there any clinical trials or research studies I could participate in?,What assistive devices or accommodations should I consider as the condition progresses?

Common questions about Autosomal spastic paraplegia type 72