Facioscapulohumeral Muscular Dystrophy (FSH, FSHD)

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Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder in which the muscles of the face, shoulder blades and upper arms are among the most affected.that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle.

Facioscapulohumeral Muscular Dystrophy (FSH, FSHD)

Symptoms of Facioscapulohumeral muscular dystrophy 

  • Facial muscle weakness (eyelid drooping, inability to whistle, decreased facial expression, depressed or angry  facial expression, difficulty pronouncing the letters M, B, and P)
  • Shoulder weakness (difficulty working with the arms raised, sloping shoulder)
  • Hearing loss
  • Abnormal heart rhythm
  • Unequal weakening of the biceps, triceps, deltoids, and lower arm muscles
  • Loss of strength in abdominal muscles (causing a protuberant abdomen and lumbar lordosis) and eventual progression to the legs
  • Foot drop
  • Abnormalities of the retina
  • Unequal (nonsymmetrical) weakness

CAUSES:-

FSHD may be inherited through either the father or the mother, or it may occur without a family history. It is almost always associated with a genetic flaw (mutation) that leads to a shorter than usual segment of DNA on chromosome 4. The segment isn’t part of any particular gene, but it nevertheless seems to interfere with the correct processing of genetic material.

DIAGNOSIS:-

Creatine kinase (CK) level: This test measures the Creatine kinase enzyme in the blood. Elevated levels of CK are related to muscle atrophy.
Electromyogram (EMG): This test measures the electrical activity in the muscle
nerve conduction velocity (NCV): This test measures the how fast signals travel from one part of a nerve to another. The nerve signals are measured with surface electrodes (similar to those used for an electrocardiogram), and the test is only slightly uncomfortable.
Muscle biopsy: Through outpatient surgery a small piece of muscle is removed (usually from the arm or leg) and evaluated with a variety of biochemical tests. Researchers are attempting to match results of muscle biopsies with DNA tests to better understand how variations in the genome present themselves in tissue anomalies.

TREATMENT:-

Custom-made ankle-foot orthosis (AFO) may help patients with prominent foot drop. Sometimes AFO may worsen the gait in the presence of knee extensor weakness and these patients may benefit from floor reaction AFO (FRAFO) or newer knee-ankle-foot-orthosis (KAFO).
Corticosteroids failed to improve muscle strength or muscle mass.
A pilot trial of sustained-release albuterol taken PO (16 mg/d) for 3 months increased lean body mass. A modest 12% increase in muscle strength was noted.

PHYSIOTHERAPY

• GOAL

  • Maintaining highest possible health.
  • Improving or maximizing of the person’s functional abilities.
  • Preventing or delaying complications that may arise from the progression of the condition.
  • Improving or maintaining quality of life.
  • Patient and family education regarding FSHD.

 PLAN

  • Ice / heat application
  • Electrotherapeutic modalities (e.g. TENS)
  • Range of motion (ROM) exercises
  • Strengthening exercises
  • Hydrotherapy (Water) Therapy
  • Recommend
  • Orthotics / braces if needed
  • Assistive devices
  • Adaptive devices
  • Gait training
  • Home or workplace modification
  • Patient education

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