DYSTONIA analysis for MDs

[Trudy Mason]

Dystonia is a neurological disorder characterized by severe muscle 
contractions and sustained postures.  It is centuries old*. However, it 
is
among the most often misdiagnosed disorders.  Therefore, in order to try 
to
correct this gap, this posting of the Highlights of the Dystonia 
Awareness
Video seems reasonable.  The Highlights of the Dystonia Awareness Video 
have been designed for frontline physicians [i.e., GPs, pediatricians, 
internists, otolaryngologists, and ophthalmologists].  By desseminating
the information below we hope to help in the proper diagnoses and 
treatment
for the isolation, pain, and frustration of this tragically misunderstood 
disorder -- dystonia.  

We estimate that it is six times more prevalent than Huntington's Disease,
 ALS, or Muscular Dystrophy** and yet as few as five percent of the over 
250,000 persons estimated to be affected have been correctly diagnosed
and are under appropriate treatment.  Although dystonia has no cure, it 
does
have successful treatments which greatly reduce the symptoms and restore
patients to many daily living activities.  The Affiliated National 
Dystonia
Associations (ANDA) thank you for taking the time to learn about dystonia.

*Drs. Neil Risch, Stanley Fahn, Xandra Breakefield, Susan Bressman, et al.

Genetic analysis of idiopathic torsion dysotnia., Nature Genetics, 152-
159
(Feb. 1995).
** National Institutes of Health, Budget office.

Highlights of the Dystonia Awareness Video:
Classification of Dystonia
* Body Region Involved
* Primary or Idiopathic [No known Organic Legion]
* Secondary Dystonia [Related to some other central nervous system damage 
or insult]
GENERALIZED DYSTONIA or Idiopathic Torsion Dystonia
* Onset age: Typically children (especially in early teen years)
* Symptoms: Abnormal foot inversion, Awkward Gait, Contractions of many
different muscle groups. May involve one or more limbs of the proximal 
or
distal muscle groups
* Common Misdiagnoses: Clubfoot, Scoliosis, Stress, Psychogenic Disorder
FOCAL DYSTONIAS: The focal dystonias affect a specific part of the body, 
but
patients may suffer from more than one at a time.  Focal dystonias are
commonly present in the fifth decade of life.
o Spasmodic Torticollis (or Cervical Dystonia)
* Symptoms: Affects muscles in the head, neck, and spine causing the head 
to assume unnatural postures, to turn uncontrollably-and often resulting 
in
considerable pain.
* Common Misdiagnoses: Stiff Neck, Arthritis, Stress, Pyschogenic 
Disorder
o Blepharospasm
* Symptoms: Causes involuntary muscle contraction of the eyelids, 
holding
them closed for increasing periods of time.  Muscles in the face can 
also
become affected causing facial distortions and grimacing. Severe
blepharospasm sufferers can be functionally blind even though their 
vision is
perfectly normal.
* Common Misdiagnoses: Dry Eye Syndrome, Tics, Stress, Psychogenic 
Disorder
o Spasmodic Dysphonia (or SD)
* Symptoms: Affects muscles that control the vocal cords resulting in 
speech
that wavers,   is halting, or is reduced to a breathless whisper.
* Common Misdiagnoses: Laryngitis, Vocal Abuse, Sore Throat, Stress,
Psychogenic Disorder
o Writer's Cramp (or Occupational Dystonia)
* Symptoms: Triggered when the sufferer attempts to write or perform 
other
fine hand functions, such as playing a musical instrument. The hand and
finger muscles contract or extend, halting the action, or requiring an
exaggerated posture to continue.
* Common Misdiagnoses: Carpel Tunnel Syndrome, Tennis Elbow, Strain, 
Stress, Psychogenic Disorder
o Oromandibular Dystonia
* Symptoms: Jaw muscles, lips, and tongue are affected, causing the jaw 
to be held open or clamped shut.  This makes eating, swallowing, or 
speaking very difficult.
* Common misdiagnoses: Temporomandibular Joint Syndrome, Stress, 
Psychogenic Disorder
SECONDARY DYSTONIA  Generally arises from some insult to the basal 
ganglia due to: Trauma, Toxins, Drugs, Neoplasm, Infarction, Other 
Organic Causes