Facioscapulohumeral Muscular Dystrophy - (FSH, FSHD)
About FSHD
About FSHD:
Genetic muscle disorder.
Mostly affects:
● Face
● Shoulder Blades
● Upper Arms
Onset for 90% patients typically occur before 20 but can be …
→ earlier (infancy) or
→ later (50+)
Estimated prevalence: 4 per 100,000
Causes:
Family history: Inherited by either affected parent
No family history: new mutations (abnormal expression of a gene → proteins cause progressive muscle weakness and atrophy
Two Types:
FSHD 1 → Chromosome 4 (95%)
● 30% have no apparent family history
FSHD 2 → Chromosome 18 (5%)
→ both have same signs and symptoms
Diagnosis:
Consideration for FSHD includes weakness of …
● Face
● Shoulder girdle
● Upper arm(s)
but… deltoid (shoulder) muscles relatively intact
Different tests include: Creatine Kinase levels, Electromyogram (EMG), Muscle Biopsy
Main Test: Genetic Testing
Symptoms – Weakness & Atrophy:
Weakness can be asymmetrical, usually progresses very slowly (most have normal lifespan)
Age of disease onset, progression and severity are highly variable with some patients, asymptomatic their entire life.
● Facial muscles: (eg. mouth → difficult to drink from straw, whistle or smile)
● Eyes: → hard to close while sleeping resulting in dry eyes
● Shoulders & UL:
→ scapula winging (weakness of lower traps, shoulder blades out & up towards neck)
→ biceps, triceps and pec muscle atrophy, clavicles with sag appearance
● Wrist and fingers: extensors impacted in severely affected individuals → wrist drop
● Abs: progressive weakness can lead to lordosis
● Lower legs: Peroneal muscles are impacted and can lead to foot drop
● Hip and pelvis:
→ difficulty with STS, climbing stairs or walking long distances
→ often begins in middle adulthood however, might not occur at all
● Back/Spine: difficulty standing straight and weakness in muscles around the spine resulting in misalignment can lead to scoliosis and lordosis
Scoliosis and Lordosis are typically mild in FSHD
Symptoms: Other
● Contractures: rare and only typically around the ankles
● Heart: rarely affected but sometimes there are EKG abnormalities
● Lungs: affected in 15% of individuals (↓ lung capacity), only 1% experience insufficiency.
● No learning disabilities / cognitive impairments, no loss of sensation, ability to control bladder & bowels or sexual function.
● Sensory perception: mild to moderate hearing loss and abnormalities with eyes.
● Muscle inflammation: lose muscle mass & strength
● Pain: multifactorial → muscle aches and pains + muscle weakness & posture
→ chronic pain (55-80%), severe pain (up to 23%)
Treatment
No cure & no treatments specific to the disease
Meds and therapy: manage symptoms & possibly slow the course of the disease
→ NSAIDS = improve comfort and mobility
→ Massage or warm, moist heat = good for discomfort
Orthoses: assist muscle into normal position to allow remaining strength to improve mobility & endurance + reduce risk of falls.
● Eg. AFOs (weak lower legs), Back supports (weak upper and lower back)
Exercise: Program should train still relatively strong muscles + rest weaker muscles (careful positioning) → avoid causing muscle cramping, pain or extreme fatigue
Surgical fixation of scapula: Stabilise scapula by attaching them to the ribs
→ relatively strong deltoid leverages off scapula which may reduce arm ROM but ↑ function
→ Post op instructions vary but usually include arm immobilisation followed by exercise & physiotherapy.
Manual Compression Test: examiner holds scapula flat against back → patient lifts arm up and out and if able to, deltoid muscle is strong enough for surgery to be beneficial.
MDT
Psychologists, Dieticians and Social Workers: assist with mental, social and physical well-being. Genetic counseling: advised for diagnosed patients and families
● Occupational & Speech Pathologists: maintain ADLs, important for infant patients
● Physiotherapists: maintenance of strength and function, improve mobility, reduce risk of falls and manage chronic pain through personalised low intensity exercise program
Future (potential) treatment: Find ways to block abnormally activated gene &/or the proteins
