SPG 31, REEP1 Variant dx today
My 10 year old adopted son was diagnosed using whole exome with REEP1 variant. I am so happy to find this group! Please keep sharing!
90 visningar
top of page
HSP 31 #HSP31 #SPG31
Offentlig·9 medlemmar
Alla ämnen
Genetics (1)
New members (1)
Full Report SPG 31
Spastic Paraplegia 31 (SPG31) Overview:
- Definition: Rare genetic disorder causing progressive leg weakness/spasticity
- Cause: REEP1 gene mutations
- Inheritance: Autosomal dominant
- Symptoms:
1. Leg spasticity/stiffness
83 visningar
medlemmar
Newbie
Newbie
Contributor
Newbie
bottom of page
Hi All, So happy to see these replies. Greetings from Ireland. We have a five year old boy. I am the carrier so awaiting neurologist appointment in July. Same therapies AFO’s physio night time cast for right leg only. Hard at the moment with AFOs as to why I can’t do what other kids do and the AFOs are heavy and awkward.