Neuromuscular Disorders

Question 1

Symptoms of neuromuscular disorders?

Answer 1

progressive weakness, muscle atrophy, contracture, deformity, and progressive disability

Question 2

Goals of PT in neuromuscular disorders:

Answer 2

prevent deformity
prolong functional capacity
improve pulmonary function
facilitate development and assistance of family support
control pain

Question 3

When is the onset of Duchenne, DMD?

Answer 3

1-4 years

rapid progression

Question 4

When is the loss of walking in Duchenne DMD?

Answer 4

9-10 years

death in late teens

Question 5

Average IQ in Duchenne?

Answer 5

average IQ 85, 30% of boys have IQ<70 related to loss of dystrophin in brain.

Question 6

Onset of Becker, BMD?

Answer 6

onset 5-10 years

slowly progressive

Question 7

Function in Becker, BMD?

Answer 7

walking maintained past early teens, survival into 30’s

Question 8

Congenital MD:

Answer 8

birth, variable progression, shortened life span

Question 9

Congenital myotonic MD:

Answer 9

birth, slow progressions, significant intellectual impairment

Question 10

What lab tests are evaluated with diagnosis of MD?

Answer 10

high serum creatine kinase, CK level

Question 11

Primary impairments in MD:

Answer 11

insidious muscle weakness secondary to progressive loss of myofibrils

Question 12

Secondary impairments in MD:

Answer 12

contractures and postural malalignment in sitting and standing, scoliosis, decreased respiratory capacity, easily fatigued, occasional obesity; increasing caregiver assistance for ADL

Question 13

Clinical Presentation

Children with MD

Answer 13

Symptom onset 2-5 yrs., diagnosed 5 yrs.

Early proximal muscle weakness

Question 14

Posture of children presenting with MD:

Answer 14

Increased lordotic posture with mild scapular winging to keep COM behind hip joint for standing stability.
Scoliosis typically develops just before or during adolescence

Question 15

Pseudohypertrophy

Answer 15

enlarged posterior calf due to infiltration of fatty and connective tissue

Question 16

Gait of children presenting with MD:

Answer 16

broad BOS, waddling

delayed until 18 months- 50% of children

Question 17

PT in early symptom management:

Answer 17

Baseline strength, ROM data, monitor progression of muscle weakness.
Family support and education.
Address activity level, peer interactions, prognosis, coping support (family-centered care).

Question 18

Where is muscle weakness in early staged in MD?

Answer 18

progressive, proximal muscles weaker early, progress faster

Question 19

Where do contractures usually develop in MD?

Answer 19

in plantar flexion and inversion of the foot, the hip and knee flexion contractures worsening with w/c use

Question 20

Where are early limitation in ROM in early stages of MD?

Answer 20

hamstrings, hip flexors, ITBs, and heel cords; contractures of hips and knees with increased time sitting

Question 21

Gowers sign

Answer 21

use of arms to push on thighs to attain standing from floor

Question 22

Symptoms in early school age period in MD:

Answer 22

initial evidence of disability, functional activities slower.
clumsiness, falling, inability to keep up with peers

Question 23

Gait in early school age period in MD:

Answer 23

mildly atypical gait, increased lateral trunk sway (waddling) that increases with running attempts
increase size of gastrocnemius muscles, ‘pseudohypertrophy’.

Question 24

When are children with MD most likely to lose independent ambulation?

Answer 24

by 9-10 years

Question 25

Gait deviations of MD:

Answer 25

Exaggerated lumbar lordosis – weakness of hip and knee extensors. Gait deviations: increased BOS, pronounced lateral trunk sway, toe walking, shoulder retraction with lack of reciprocal arm swing

Question 26

Functional Grade 1

Answer 26

walks and climbs stairs without assistance

Question 27

Functional Grade 2

Answer 27

walks and climbs stairs with the aid of railing

Question 28

Functional Grade 3

Answer 28

walks and climbs stairs slowly (>12 sec, 4 stairs) without railing

Question 29

Functional Grade 4:

Answer 29

Walks unassisted and rises from chair, cannot climb stairs.

Question 30

Functional Grade 5:

Answer 30

Walks unassisted but cannot rise from chair or climb stairs.

Question 31

Functional Grade 6:

Answer 31

Walks only with assistance or walks independently with long leg braces

Question 32

Functional Grade 7:

Answer 32

Walks in long leg braces, but requires assistance for balance.

Question 33

Functional Grade 8:

Answer 33

Stand in long leg braces, but is unable to walk even with assistance

Question 34

Functional Grade 9:

Answer 34

uses a wheelchair

Question 35

Functional Grade 10:

Answer 35

confined to bed

Question 36

10 Meter walks test greater than 12 seconds:

Answer 36

predictive of loss of ambulation within 1 year

Question 37

What do sitting to standing transitions predict?

Answer 37

inability to transition predicts LOA within 2 years

Question 38

Muscle groups targeted for strengthening

Answer 38

Abdominals Hip extensors and abductors Knee extensors

Question 39

Exercises to avoid:

Answer 39

Avoid high resistance and eccentric exercise. Participation in endurance exercises, e.g., cycling and swimming for overall conditioning, standing or walking daily (2-3 hours).

Question 40

Home stretching program:

Answer 40

1-2 times daily, slow, pain free stretch 5-10 repetitions, 10 sec hold, 10 minutes.

Question 41

Characteristics of pre-adolescent period:

Answer 41

8-10 years of age - increasing falls, c/o fatigue require guarding during walking, stair climbing wheelchair fitting difficulty standing

Question 42

Why is there difficulty standing in pre-adolescent period?

Answer 42

inability to maintain COG behind hip or in front of knee due to hip extensor and quadriceps weakness.

Question 43

Characteristics of adolescent period:

Answer 43

Increased difficulty with transfers; instruct in body mechanics, safety Significant progression of disability, trunk weakness > loss of sitting balance loss of walking by 10-12 years

Question 44

Indications for surgery:

Answer 44

Ankle plantar flexion contractures >10° ITB contractures >20° but <45° Posterior tibialis transfer for equinovarus foot. Segmental spinal instrumentation early may improve sitting posture and alignment, quality of life

Question 45

Post-surgery PT:

Answer 45

standing in casts gait training as tolerated conditioning exercises for hips, trunk, UE’s breathing exercises

Question 46

Sciolosis:

Answer 46

50% prevalence in 12-15 year-olds, 90% by 17 years

Question 47

Key muscles to maintain strength for transfers

Answer 47

Shoulder depressors, triceps – self-feeding, hygiene. | Shoulder flexors and abductors, elbow flexors

Question 48

Spinal Muscular Atrophy

Answer 48

Rare, autosomal recessive genetic defect on chromosome 5q13. Abnormality of large anterior horn cells in spinal cord, with reduced number and progressive degeneration of remaining cells leading to muscle atrophy

Question 49

Which muscles are affected first in spinal muscular atrophy?

Answer 49

Proximal muscles and lung muscles

Question 50

Subtypes of SMA

Answer 50

Type I Type II Type II Type IV

Question 51

SMA Type I:

Answer 51

0-6 mo | child is very weak, does not learn to sit

Question 52

SMA Type II:

Answer 52

(6-18 mo) | child sits but does not walk without AMD.

Question 53

SMA Type III:

Answer 53

(>12 mo) | child walks independently

Question 54

SMA Type IV:

Answer 54

adult onset

Question 55

Characteristics of SMA Type I:

Answer 55

Supine - hips flexed and abducted, elbows supported on surface. Head lag in pull to sit. Inability to attain Landau position. Intolerance for prone position due to respiratory limitations, unable to prop, turn head to sides

Question 56

Characteristics of SMA Type II:

Answer 56

Initial presentation late in first year, infant is not pulling to stand. Proximal weakness and wasting of extremity and trunk musculature. Prone, quadruped difficult due to long lever arm. Transitions to and from sitting difficult. Delayed acquisition of motor skills, 90% sit by one year of age, 75% remain independent sitters until age 7, 50% until age 14. Decline of abilities in second year. Fine resting tremor, tongue fasciculations.

Question 57

Characteristic SMA Type III:

Answer 57

Progressive weakness, muscle wasting, onset toddler years into adulthood. Proximal muscles affected first, may be confused with MD. Absent reflexes and fasciculations. Contractures and progressive spinal deformities are uncommon when ambulatory. Symptom onset prior to age 2 have poorer prognosis, stop walking after 12 years. PT to maintain function and flexibility, bracing for standing, walking

Question 58

Charcot-Marie-Tooth Disease

Answer 58

Hereditary motor and sensory neuropathy, HMSN. Slowly progressive neuropathy affecting peripheral nerves. Sensory loss, weakness, muscle wasting in distal muscles of feet, lower leg, hands, and forearms