Facioscapulohumeral Muscular Dystrophy – FSHD

Facioscapulohumeral Muscular Dystrophy – FSHD

It is the second most common muscular dystrophy with a frequency of 1: 8,333 to 1:15,000 patients worldwide. Symptoms often start during puberty, without excluding their appearance from infancy to adulthood, affecting both sexes equally. It is distinguished in two major categories depending on the type of mutation in DNA, type 1 (FSHD1 – 95% of patients) and type 2 (FSHD2 – 5%). It is inherited in autosomal dominant pattern, although 30% of cases are due to de novo mutations. The progression and severity of the disease depends on the onset of symptoms, type and magnitude of the mutation. The sooner symptoms start the more severe the condition is. Especially when muscle weakness occurs at birth or early childhood, it is characterized as neonatal FSHD and has a frequency of 1: 30,000 worldwide. In any case the symptoms are the same.

 

Symptoms

There is a weakness in the facial muscles, which leads to difficulty in opening or closing the eyes (especially during sleep), or in the movement of the lips (inability of express movements). There is muscular weakness in shoulders and arms, creating difficulty in everyday movements and lifting hands. In addition, there may be weakness in the lower leg, leading to falls, injuries, and walking difficulties.

Other common symptoms may be:

  • Weakness of abdominal muscles and spine, leading to inability of lifting the body and orthopedic problems of the spine (eg. lordosis).
  • Asymmetric weakness mainly in one side of the body.
  • Pain of muscles and joints.

Less common problems are:

  • Disorders of eye vessels, which may even lead to loss of vision.
  • Respiratory problems – rare but serious.
  • Hip and lower limb muscle weakness.
  • Hearing loss bilaterally.
  • Stretched shoulder blades (“wings”).
  • Epilepsy – learning difficulties (rarely).

Diagnosis

  • Clinical examination by special neurologists, physicians, pneumologists, orthopaedics, ophthalmologists, otolaryngologists.
  • Personal and family history.
  • Blood test and CK enzyme assay
  • Electromyograph
  • Nerve conduction test.
  • Muscle biopsy.
  • Ophthalmological tests.
  • Heart ultrasound – heart function monitoring.
  • Respiratory monitoring – tests.
  • Genetic tests.

Management

There is no cure yet, but symptomatic relief measures are taken to improve patient independence and quality of life.

  • Monitoring and treatment of any respiratory disorders.
  • Monitoring of ocular and acoustic function to prevent blindness and deafness.
  • Use of orthotics and  wheelchairs to improve motion.
  • Orthopaedic monitoring and / or corrective shoulder surgery, when necessary.
  • Pharmacologic treatment.
  • Physiotherapy (Available video for exercises https://www.youtube.com/watch?v=sFXwGenIAgo&feature=youtu.be ) – Occupational Therapy.
  • Swimming – Hydrotherapy.

 

Guidelines related to assessment, diagnosis and management of FSDH, published by the American Academy of Neurology: 

NEUROLOGY2014626812

Evidence-based Guideline Summary_ Evaluation, Diagnosis, and Management of Facioscapulohumeral Muscular Dystrophy

 

Information about clinical trials conducted globally: https://www.centerwatch.com/clinical-trials/listings/condition/350/muscular-dystrophy/ and https://clinicaltrials.gov/ct2/home

You could also follow the research of Facio-Therapies, dedicated to FSHD: https://www.facio-therapies.com/

 

References

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