Understanding ARSACS: Symptoms, Genetics, and Management
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a genetic condition characterized by poor coordination, speech difficulty, and weakened limbs. It follows an autosomal recessive inheritance pattern, meaning both parents carry a mutated gene without showing symptoms. The initial symptom is an unsteady gait in toddlers, typically around 12-18 months. As the disease progresses, signs of muscle stiffness and loss of coordination develop, often requiring wheelchair use by the thirties or forties. While there is no cure, treatments like Baclofen, occupational and physical therapy can help manage symptoms.
Understanding ARSACS: Symptoms, Genetics, and Management
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Presentation Transcript
ARSACS Gracen boxx
How you get it • “This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.” 1 picture 2
symptoms • People with ARSACS have bad coordination, difficulty talking, typically they have subconscious eye movement , there arms and legs get weak “An unsteady gait is the first symptom of ARSACS. It usually appears between the age of 12 months and 18 months, as toddlers are learning to walk. The signs and symptoms worsen over the years, with increased spasticity (stiff muscles and muscle spasms) and ataxia (loss of muscle coordination) of the arms and legs. In some cases spasticity disappears, but this apparent improvement is thought to be due to degeneration of nerves in the arms and legs. Most affected individuals require a wheelchair by the time they are in their thirties or forties.” 3
Treatment of the Arsacs and expectation So far there is no cure, treatments however consist of Baclofen (an oral medication), occupational therapy (OT), and physical therapy (PT). People with ARSACS are expected to be using a walking cane by age 17 and be in a wheel chair by 30.
1http://wiki.medpedia.com/Autosomal_recessive_spastic_ataxia_of_Charlevoix-Saguenay_(ARSACS)1http://wiki.medpedia.com/Autosomal_recessive_spastic_ataxia_of_Charlevoix-Saguenay_(ARSACS) 2 https://www.23andme.com/health/arsacs/ • 3http://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
