Neuromuscular disorders

Question 1

Duchenne Muscular Dystrophy cause

Answer 1

Mutation in a gene on the X chromosome, that prevents the production of dystrophin, a skeletal and cardiac muscle protein

Question 2

DMD effects

Answer 2

Progressive muscle cell/tissue degeneration and replacement by fatty deposits (pseudohypertrophy)
Progressive muscle weakness, paralysis, eventually death

Question 3

DMD main symptom

Answer 3

Muscle weakness and muscle wasting
Symptoms typically manifest around 6 years but can be in infancy
Gower’s sign - affects STS

Question 4

DMD MSK signs

Answer 4

Hyperlordosis of the spine, leading to shortening of hip flexor muscles
Muscle contractures of the achilles tendon and hamstrings
Pseudohypertrophy seen in calf muscles and tongue
Scoliosis

Question 5

DMD developmental signs

Answer 5

Lack of balance, frequent falls
Unusual/awkward gait 
Difficulty with running/jumping
Loss of ability to walk around age 12 
Difficulty getting up from ground

Question 6

DMD cardiorespiratory signs

Answer 6

Fatigue, pneumonia, aspiration

Breathing difficulties and heart disease

Question 7

Physio assessment - DMD

Answer 7

Monitor muscle function
Monitor pseudohypertrophy
Gait, mobility needs
Cardiorespiratory

Question 8

Physio management - DMD

Answer 8

Activity is encouraged. Inactivity can make muscle disease worse
Maintain muscle strength and function
Flexibility and ROM
Orthoses, walking aides, wheelchairs

Question 9

Spinal Muscular Atrophy - definition

Answer 9

Genetic defect of SMN1 gene - death of neuronal cells in the anterior horn of the spinal cord and subsequent system wide muscle wasting

Question 10

SMA - growth and MSK features

Answer 10

Various degrees of severity
System wide muscle wasting
Mobility impairment
Weight lower than usual

Question 11

SMA - cardiorespiratory features

Answer 11

Loss of strength of the respiratory muscles
Weak cough
Weak cry (infants)
Accumulation of secretions in the lung or throat
Respiratory distress
Bell shaped torso - caused by only using abdominal muscles for respiration

Question 12

SMA - Tone and reflexes

Answer 12

Areflexia
Overall muscle weakness
Poor muscle tone
Limpness or a tendency to flop

Question 13

SMA - Gross motor

Answer 13

Difficulty achieving developmental milestones
Difficulty sitting/standing/walking
Frog-leg position in infants when sitting

Question 14

SMA - Fine motor

Answer 14

Limited movement

Clenched fists with sweaty hands

Question 15

SMA - Oral motor

Answer 15

Fasciculation of the tongue

Difficulty sucking or swallowing, poor feeding

Question 16

SMA - Physio management

Answer 16

Orthopedic/MSK
Respiratory
Equipment
Mobility