Spastic Paraplegic (SPG1)/Shuffling Gait

Hereditary spastic paraplegia  is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. Other symptoms can occur in the pure subtypes including bladder dysfunction or abnormal sensations in the lower legs or feet. HSP is classified as “complex” or “complicated” if additional symptoms are present such as an inability to coordinate voluntary movements (ataxia), seizures, intellectual disability, skin disease, dementia, and hearing and vision abnormalities. Individual forms of HSP are caused by a mutation to a specific gene. 

By definition all subtypes of HSP are characterized by spastic paraplegia. Below is a list of several of the better known subtypes of HSP. Next to the subtypes name is the inheritance pattern; whether it is pure, complex or both; genetic locus (location of the disease gene whether known or unknown): the gene name (if known): and a brief description of symptoms. Many of the subtypes of HSP have been identified have only been seen in individual families (kindreds) or only a few individuals; most of those disorders are not discussed here.

SPG1: X-linked – Complicated – Xp28 – L1CAM

This form of HSP affects males and is associated with developmental delays, moderate to severe intellectual disability, adducted thumbs, and hydrocephalus, a condition in which accumulation of excessive cerebrospinal fluid in the skull causes pressure on the tissues of the brain. The L1CAM gene mutation that causes SPG1 also causes MASA syndrome, X-linked corpus callosum agenesis, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius. Collectively, these disorders are known as L1 syndrome. NORD has a separate report on L1 syndrome.

 

 

Here are some resources for you:

https://www.ninds.nih.gov/disorders/all-disorders/hereditary-spastic-paraplegia-information-page

https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia

About Tonya Aycock

Hi, my name is Tonya. I am a wife and mom of two children (Brandon & Brently). I am a born again Christian. My passion is raising awareness for my boys and making sure they have the very best that I can give them. I love singing. I was in a Southern Gospel Group for about three years, and I enjoyed every minute of it. I think most of all, besides the singing, I enjoyed meeting people and sharing my testimony of how God has brought me through. I love playing guitar and hearing my sweet husband play music and sing to our boys. I enjoy making crafts and designing floral arrangements. I love camping. I am always up for a new adventure! I enjoy working in my yard and anything outdoors. I love my home. I like taking pictures of God’s beautiful creation. The hummingbirds, Canadian geese, turtles, and deer are beautiful! I never dreamed that I would enjoy the country as much as I do. I have always been a city kind of girl, so let’s just say I am adjusting to the country's life well. Haha! Another exciting thing about my husband and myself is that we have always wanted to open a restaurant. Maybe one day… who knows…. I created this blog to share the in’s and out’s of daily living of being a mom of children with special needs, how life can change in an instant, losing a child, finding real friendships that live the same kind of life that I do that truly understand, and much more. I love to talk about my faith as I learn how to cope through life (good and bad) together. I want to always put complete control in my Lord and Savior, Jesus Christ, because without Him, I am nothing. My prayer is that I can somehow help someone by sharing my story. It is most definitely easier said than done, and I fail daily, but striving to make things work in a world that doesn’t understand is just one of the reasons I am here, writing and sharing my story and trying to be the best me as I can and being the best mother that my children will love and respect and see me survive and thrive as I watch them surviving two thriving in life. But, most of all that they see Jesus in me. “For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future. Jeremiah 29:11 God has a plan for my life and my family as well and for who is reading this right now. I can only hope and pray that I am doing what He has called me to do…… Being a wife, mom, advocate of special needs, a friend, encourager, but most of all… a servant of His. This has been and continues to be a unique life raising my SuPeR HeRo children dancing in the rain of the beautiful, messy life!
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