Transcript arsacs - GenDisorders

ARSACS
Gracen boxx
karyotype
How you get it
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“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
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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.
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1 http://wiki.medpedia.com/Autosomal_recessive_spastic_ataxia_of_CharlevoixSaguenay_(ARSACS)
2 https://www.23andme.com/health/arsacs/
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3http://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoixsaguenay