Facioscapulohumeral Muscular Dystrophy

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Facio-scapulo-humeral Muscular Dystrophy
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Introduction

• What does the term muscular dystrophy actually
  mean?
• What happens in muscle?
• What do we mean by facio-scapulo-humeral?
• Practicalities of life with FSH
• what can doctors do...

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Some Background Info

• Dr Meryon in 1851/2 described boys with weakness,
  progression, degeneration of muscle and noted
  familial nature and shortened survival into late
  teens only.
• Proposed a primary muscle disorder

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Some Background Info

• Dr Duchenne in 1868 re-described similar problems
  in families but thought the problem lay in nerve
  not muscle. Duchenne was aware of Meryons work.

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Some Background Info

• In the event Meryon was right and Duchenne was
  wrong.
• History called this disorder Duchenne Muscular
  Dystrophy
• History is often unfair...
• Other primary muscle disorders later described as
  other muscular dystrophies

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• Muscular Dystrophy
• what do we mean

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• First some
• anatomy - what muscle looks like
• physiology - how it contracts

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• Any process disrupting cell surface likely to
  lead to muscle damage...
• muscle cell may die,
• will be regenerated, to an extent
• muscular dystrophies are genetic disorders where
  repeated cycles of damage and repair lead to
  eventual scarring of muscle and replacement by
  fibrosis (scar) and fat...

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Normal
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Dystrophic
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• Recognised patterns described in muscle diseases
  in 1950s included
• Facio-scapulohumeral
• distal
• scapuloperoneal
• ocular myopathy
• others... now 30 recognised
• limb girdle..
• eg

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• FSH
• prevalence?
• gene testing has identified new patients who
  would not have been diagnosed in the past
• in excess of 1100,000 - a prior estimate
• now 115,000 - 120,000

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• Variability....
• classically is FSH in distribution

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• Variability....
• classically is FSH in distribution, but
• can be focal, highly asymmetrical, 10 - 25
  eventually wheelchair users
• availablity of a genetic diagnosis has expanded
  this
• juvenile / infantile onset, prominent bulbar
  features, mimics Coats syndrome. Low risk
  respiratory problems and no cardiac features
• very late onset and close to asymptomatic
  (possibly up to 30, may confuse those expecting
  a dominant pedigree)?
• inflammatory biopsies and ?? stepwise course

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• Other features of FSH - deafness
• severe deafness rare
• 2/3 some demonstrable loss - high and low
  frequencies
• all showed evidence changes at cochlear level -
  hair cells on transiently evoked oto-acoustic
  emissions

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• Other features of FSH - heart
• conventionally unaffected
• recent study show subclinical changes in heart
  rhythm in 24 patients aged 41 /- 14. Echos all
  normal though group differed from controls. ECGs
  and 24 hour recordings also all normal but back
  averaging techniques showed changes and some
  instability.
• Followed confusing prior anecdotal reports of
  fast as well as slow heart rates...

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• Other features of FSH - pregnancy
• usual advice is that pregnancy has risk of
  deterioration
• FSH?, 38 women, 105 pregnancies, 78 births. 24
  reported worsening, usually did not resolve,
  though criteria for this unclear - self reported
  assessments - an outcome not reported in one
  other series.
• Pregnancy and delivery reported as poor but not
  reflected in medical notes

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• Other features of FSH - ocular features
• retinal changes
• capillary dilatation, micro-aneurysms
• v rare retinal detachment
• possibly related to vascular gene changes, recall
  that biopsies may be inflammatory

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• Therapy?....

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• Medical issues in all muscle disorders
• excluding other evolving pathologies
• contractures and pain
• cardiac function
• respiratory muscles
• genetic aspects
• involving helpful others
• formal review
• staying one step ahead of problems

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Contacts

• Occupational Therapist
• Respiratory Physician
• Physiotherapist
• Orthopaedic surgeon
• Neurologist
• Medical researcher
• Social Worker
• MDC Care Advisor
• General Practitioner
• Teachers and employers
• Orthotist
• Disability rights advisor
• Speech and Language Therapist
• Driving advice and adaptations
• Employment rights officer
• Clinical Geneticist
  
• Cardiologist
• etc.....

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• Specific therapies?
• Scapular fixation?
• Exercise
• Muscle building....
• Stem cells etc etc