What it is?

The term “dystonia” came from Greek/ New Latin sources.

The first use of the term “dystonia” was in 1860

The first medical use was by German neurologist Hermann Oppenheim in 1911.

The simple meaning of dystonia
The simple meaning of dystonia

A neurological movement disorder, in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements may resemble a tremor.

Dystonia is often initiated or worsened by voluntary movements, and symptoms may “overflow” into adjacent muscles.

How Common ?

  • About 70,000 people suffer from dystonia in the UK.
  • Around 2/3 are cervical dystonia.
  • Dystonia is under-diagnosed.
  • About 8-12 new cases per million per year.
  • Nearly 2:1 female:male ratio.

Types

  1. Focal: Commonest e.g cervical dystonia, blepharospasm, writers cramp.
  2. Segmental: Affects more than one part of the body e.goro-facial, oro-mandibular, or pharyngo-laryngeal.
  3. Generalized: Childhood, AD, torsion dystonia. Usually starts in lower limbs then spreads

Causes

The causes of dystonia are not known yet.

Two types of dystonia:

  1. Familial:   Less than 0.1%

  •   DYT1-21, and DYT 24  genes
  •   Other genes: CIZ1, GNAL, ATP1A3 and   PRRT2, THAP1 and SLC20A2

  2. Acquired:

  • Primary
  • Secondary

Secondary acquired dystonia

  1. Birth-related e.g cerebral palsy.
  2. Physical trauma e.g injuries, surgery.
  3. Infections.
  4. Vascular e.g stroke.
  5. Inflammatory e.g MS.
  6. Degenerative e.g PD.
  7. Poisoning, such as lead poisoning.
  8. Drugs, such as neurolepticse.gRisperidone, or anti-sickness e.gmetoclopramide.
  9. Psychogenic.

It is strongly believed that the trigger of dystonia starts at the “basal ganglia”:

Basal Ganglia

  1. Globus pallidus.
  2. Putamen.
  3. Caudate nucleus
  4. Substantianigra
  5. Sub-thalamic nuclei
  6. Olivary nuclei
  7. Brain stem reticular formation.
Basal ganglia in cadaver material
Basal ganglia in cadaver material
Basal ganglia in cadaver material
Basal ganglia in cadaver material
T2-MRI showing inflamed basal ganglia in a patient with CJD (caudate and putamen nuclei)
T2-MRI showing inflamed basal ganglia in a patient with CJD (caudate and putamen nuclei)
T2-MRI showing inflamed basal ganglia in a patient with CJD (globus pallidus)
T2-MRI showing inflamed basal ganglia in a patient with CJD (globus pallidus)

Features

Early

  1. Loss of precession.
  2. Muscle cramps
  3. Trembling
  4. RLS

Late

  1. Abnormal posturing
  2. Muscle pains.
  3. Muscle cramps.
  4. Relentless muscle spasm.
  5. Lip smacking.

How dystonia is diagnosed?

  • The diagnosis of dystonia is clinical.
  • Doctors know the clinical features which may identify dystonia or features those exclude other similar conditions.
  • No particular test is diagnostic for dystonia.
  • Any blood, urine, or imaging tests are likely to exclude other similar conditions.

Similar conditions

  1. Parkinson’s disease
  2. Essential tremor.
  3. Ticks
  4. CTS
  5. TMJ
  6. Tourette’s syndrome
  7. Wilson’s disease.
  8. Huntington’s disease
  9. Conversion disorders.

Investigations (tests)

No test is diagnostic.

Any investigations are to R/O underlying conditions.

  • Bloods: Infections, inflammations, drugs, astrocytes, B12, folate, Caeruloplasmin, Na+/K+ chennel abs.
  • Urine: Copper.
  • Genetics: DYT genes. Other genes:CIZ1, GNAL, ATP1A3, PRRT2, THAP1, and SLC20A2.
  • Imaging: CT, MRI, DaT, SPECT, PET.
  • EMG/NCS

Treatment

“Multidisciplinary Approach”

1.   Medical: a- Drugs. b- Botulinum.

2.   Surgical: a- DBS.      b- Lesioning.

  1. Psychotherapy.
  2. Physiotherapy
  3. OT

Medical treatment

  1. Antichollinergic: Trihexyphenidyl and procyclidine.
  2. Muscle relaxants: Baclofen, Dantrolene.
  3. Benzodiazepines: Daizepam, Clonazepam, Tizanidine.
  4. Anti-Parkinsonian: Roperinole, Pramipexole, Levodopa.

The Botulinum

History

  • BOTULISM is an often-fatal disease of the nervous system of humans and other mammals that was first recorded in Europe in 1735 and that was suspected of being associated with a German sausage. It was named after the Latin word for sausage, ”botulus.”
  • The disease is caused by neurotoxic proteins so poisonous that one-millionth of a gram of them can kill a man and one pint would be enough to kill everyone on earth. 
  • The toxin, called botulin, is produced by seven known strains of a rod-shaped bacterium called Clostridium botulinum, which is common in soils worldwide and feeds on dead and decaying organic matter. The bacteria themselves are not toxic when ingested, and they are commonly consumed on fruits, vegetables and seafood.

Botulinum 7 serotypes

  • Serotype A: Botox, Dysport, Xeomin.
  • Serotype B: Neuroblock or Myoblock.
  • Serotype C
  • Serotype D
  • Serotype E
  • Serotype F
  • Serotype G

How Botulinum works?

Myoneural junction (motor end-plate)
Myoneural junction (motor end-plate)

What happens in the nervous system is that the botulin inhibits the body’s production of acetylcholine, the chemical that produces a bridge across synapses, where nerve cell axons and dendrites connect with each other.

Complications

Will follow !

The Botulinum Clinic 

Will follow !

How helpful the botulinum is ?

Case 1

A 50 years old lady, was referred to the Botulinum clinic from Eye casuality. She mentioned double vision for about 2 weeks, with intermittent muscle twitching around her left eye, sometimes both eyes which increases over time during the day.  She said her left eyelids tend to shut closely sometimes with a lot of twitching in the eyelids themselves. It wasn’t a classical Blepharospasm, nor it was a clear hemifacial spasm.

An MRI brain was ordered, and that showed benign tumour called plasmacytoma. She had chemotherapy followed by stem cell transplant and she is now in a full remission. She had her botox injections, and she currently is doing very well on 6 monthly follow up intervals.

Case 2

  • 18 years female was seen in 2010 with severe chronic migraine. She has tried most of the recommended migraine medications with either no benefits or had bad side effects.
  • She is an ice-skater since younger age, then she became ice-skating instructor at the age of 19.
  • Her migraine medications affected her job very much, and that had a negative effect on her job. She was on the verge of loosing her job, and she became seriously worried about her career. She had warnings her ability to keep her job.
  • She was then offered Botox in Jan. 2011. She had 9 sessions of treatment, last was in Oct.2013. She did not require any since.
  • She is now very well, touring the world doing ice-skating dancing shows and performances with no more migraine medications and their side effects.

Case 3

  • She was in her early 40 with severe writer’s cramp.
  • She worked as a clerk in a court. She needed to use her right hand for a lot of writing.
  • She couldn’t cope, and had already received warning about the possibility of her losing her job.
  • She was referred to the Botulinum clinic and had her first injections with promising results.
  • She had a letter of support and reassuring from the Botulinum clinic with good expectations on botox.
  • She kept her job, and now she is experiences the best control of her dystonia.

Case 4

  • Married lady in her early 40s.
  • Suffered from Distorted posture with severe cervical dystonia since childhood following a fall from a horse..
  • Seen at first by neurosurgeons, and was offered corrective surgery. She was worried and did not like to go ahead.
  • She was referred for possible botulinum treatment in 2006.
  • She had few sessions with very little improvement. She required combined Botulinum & physiotherapy. It wasn’t possible !.
  • Private physiotherapy (£1900) sponsored by drug company.
  • Significant improvement. No more thinking of surgery. Had a full time job with NHS.
  • Last treatment in Jan. 2014. She moved to another place.

Case 5

  • 67 yrs. lady florist with Blepharospasm.
  • Treated with Botox in a different health authority for 10 yrs.
  • Her treatment was transferred to WGH when the Botulinum clinic was opened for the first time in 2004.
  • Adopting a dynamic style in this clinic, the lady’s treatment became adjustable over time.
  • Botox doses were gradually reduced, and the treatment intervals extended gradually to reach 14 monthly at last. 
  • She did very well, and no treatment was given for 14 months with no recurrence of her symptoms.
  • Last treatment was given in 2008. She had an open F/U but she has never required it since that year.

Surgical treatment

  • Deep Brain Stimulation (DBS)
  • Selective Peripheral Denervatione.g Cervical dystonia.
  • Surgical Lesioning.

Criteria for surgical treatment in dystonia

  1. The patient has been evaluated and treated by a qualified movement disorders neurologist who has clearly diagnosed the type of dystonia, and excluded other neurological problems.
  2. The dystonia adversely affects quality of life by interfering significantly with normal activities or causing social isolation.
  3. The patient’s neurologist has attempted treatment with a variety of medications, which should at least include sinemet and anticholingergic medications such as trihexyphenydil. Baclofen and muscle relaxants such as clonazepam are also often tried before considering surgery.
  4. The dystonia affects too large a body area to be treated effectively with injections of botulinum toxin; or attempts at injections have been tried and failed.
  5. The patient and family clearly understand the nature and complexity of DBS therapy as well as the fact that the therapy is too new to guarantee successful treatment in any individual case.

Deep Brain Stimulation (DBS)

  • Deep brain stimulation is a surgical procedure.
  • Two small holes will be drilled into the skull.
  • An electrode will be passed through each hole
  • The two electrodes are then positioned in the globuspallidus, or sub-thalamic nucleus.
  • The electrodes are then connected to a generator.
  • The generator is then implanted under the skin.
  • The pulse generator sends signals to the GP or STN.
  • This alters nerve impulses produced by the basal ganglia.
Stimulating Tools
Stimulating Tools
Technique
Technique
Appearance
Appearance

The most common complication of DBS is that either the pulse generator stops working or the electrodes become displaced, which may require further surgery to correct them.

Supportive Management

  • Psychological.
  • Physical.
  • Social.
  • Educational.
  • Dystonia society.

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An attempt to understand around us via pondering inside us