About
My Early-Onset Generalized Dystonia (DYT1+)?
About
Early-Onset Generalized Dystonia (DYT1+)?
Historically,
Early-Onset Generalized Dystonia (DYT1+) has also been
referred to as: Primary Generalized Dystonia, Idiopathic Torsion
Dystonia, and Dystonia Musculorum Deformans. Dystonia is a
neurological movement disorder characterized by involuntary muscle
contractions, which force certain parts of the body into abnormal &
painful movements or postures. Dystonia can affect any part of the
body including the arms and legs, trunk, neck, eyelids. face, or
vocal cords. Symptoms in Early-Onset Generalized Dystonia (DYT1+)
can range from twisted postures; turning in of the foot or arm;
muscle spasms; unusual walking with bending and twisting of the
torso; rapid (sometimes rhythmic) jerking movements; and progression
of symptoms leading to sustained fixed postures. Legs and trunk are
commonly affected by Early-Onset Generalized Dystonia (DYT1+).
What
Causes Early-Onset Generalized Dystonia (DYT1+)?
The gene
responsible for Early-Onset Generalized Dystonia (DYT1+),
termed DYT1, was initially mapped to human chromosome 9q34 and this
positional information was refined and used to identify the DYT1
gene. This causes a mutation in a neurotransmitter, called TorsinA.
TorsinA, is a regulatory neurotransmitter, and does not act correctly
in us with Early-Onset Generalized Dystonia (DYT1+). Dystonia
is believed to be impacted by an abnormal functioning of the basal
ganglia which are deep brain structures involved with the control of
movement. The basal ganglia assists in initiating and regulating
movement. What goes wrong in the basal ganglia is still unknown.
The DYT1
mutation that causes Early-Onset Generalized Dystonia (DYT1+)
is a deletion of three nucleotides, called GAG. Nucleotides are the
molecular building blocks of DNA. This relatively minute change in
the TorsinA blueprint apparently causes critical changes in the
function of the protein, and in some cases, ultimately leads to the
symptoms of Dystonia. Therefore, individuals who have this mutation
are carriers of the DYT1 GAG deletion.
What is a
Dystonic Storm?
A
Dystonic Storm is an attack of severe muscle contractions, and can be
life threatening, because they can lead to repository arrest.
A Dystonic Storm' can last any where from 25 minutes to 'several
hours. During a Dystonic Storm I need oxygen delivered by mask to
keep me from hyperventilating and to assist with muscle relaxation. I
need to receive my Baclofen (20 MG), Diazepam (10MG), and Hydrocodone
(10/650MG) as soon as they cab be administered, which will hopefully
be done before Paramedics arrive. My medications are in a white vial
on my key chain. If it's empty, I've already been given my
medications, other wise please give me all pills in my container. I
can't intentionally swallow so please just put my pills in my mouth
and give me a drink and my swallowing reflex will cause me swallow my
pills safely. The sooner my medications are administered the shorter
my attack. Although, even after the attack ends I still suffering
from permanent Dystonic postures & contortions caused by
my Early-Onset Generalize Dystonia (DYT1+).
These
Dystonic contortions
are all painful and beyond my control, they are my primary symptoms
of my Early-Onset Generalized Dystonia (DYT1+).
My permanent Dystonic postures &
contortions include:
My neck being
turned to my right, and pulled back slightly.
Both my left and
right toes, foot arches, ankles, and my leg muscles bend my legs at
my knees.
I can never
lay down, because my abdominal muscles pull me forward in a slight
crunch it's impossible for me to lay down! So if I have to
transported to the ER, please sit the cot up,
and don't try to force me to lay down.
My right are is
permanently pulled toward my chest and each finger is contorted in
its own way.