Neuromuscular Junction

Disorders
A. General Medical
Background
Anatomy
Nerves connect with muscles
at the neuromuscular junction.
There, the ends of nerve fibers
connect to special sites on the
muscles membrane called
motor end plates. These plates
contains receptors that enable
muscle to respond to
acetylcholine, a chemical
messenger (neurotransmitter)
released by the nerve to
transmit a nerve impulse
across the neuromuscular
junction. After a nerve
stimulates a muscle at this
junction, an electrical impulse
flows through the muscle
causing it to contract.
A. Definition
-abnormalities that
occurs in the connection
between a nerve cell and
the muscle fiber that it
supplies due to
autoimmune reactions
that result in muscle
weakness.
B. Classification
a. Myasthenia Gravis
b. Myasthenic Syndrome
Myasthenia Gravis
A. Definition
Most common
autoimmune
disorder of the
NMJ.

A chronic
autoimmune
disease
characterized by
weakness and
fatiguing of some
or all muscle
groups.
Weakness worsens
as a result of
sustained or
repeated exertion
or towards the end
of the day; is
relieved by rest.
B. Classification
Ocular
Mild Generalized
Acute Fluctuating
Late Severe
C. Epidemiology
Occurs in all ethnic
groups and both
sexes
Mostly affects
women between
20-30 years of age
Affects men
between 50-60
years of age
Women to Men
ratio= 3:2
D. Etiology
Idiopathic/Autoimmun
e
Main cause is
undetermined
Deficiencies are found
at the NMJ

E. Pathophysiology
Ach receptors at motor end
plate or the post-synpatic
muscle membrane is attacked
by antibodies

Decreased Ach receptors

(Those that remain are
flattened)

Decreased efficiency of the NM

transmission
F. Clinical Manifestations
Muscle weakness
or fatigability
Limb weakness is
more severe
proximally than
distally
Slurred speech
with nasal twang
First noticeable
symptom of
weakness is
usually weakness
of the eye muscle
(Ocular
Myasthenia)

Weakness is
typically least
severe in the
morning and
worsens as the day
progresses
Weakness is
increased by
exertion and
alleviated by rest
Weakness may be
mild to life-

threatening (when
respiratory
muscles are
involved)
(-) Muscle Atrophy
(-) Loss of
sensation
Ptosis
Diplopia
Dysarthia
Bulbar involvement
Alteration in voice
quality
Dysphagia
Nasal
Regurgitation
Difficulty in
chewing

G. Complications

Myasthenic Crisis:
life-threatening
condition, which
occurs when the
muscles that
control the
breathing becomes
too weak to do
their function.
Thymus tumors:
mostly noncancerous
Underactive or
overactive thyroid
Systemic Lupus
Erythematosus
Rheumatoid
Arthritis

H. Diagnosis

History taking and

clinical
observations of
weakness
Immunologic
testing: Detects
anti-Ach receptor
antibodies
Edrophonium
(Tensilon) Test:
used to
demonstrate
improvement in
the myasthenic
muscle by
inhibiting
acetylcholinesteras
e; Muscle
endurance are
tested before and
after test; IV
administration of
edrophonium
chloride or
neostigmine
Electrodiagnosis:
stimulation of
nerve-muscle
motor unit with
short sequences of
rapid, regular,
electrical impulses.
Ice Test: Applying
of latex-free glove
with crushed eye
over eyelids for 2
minutes
Rest Test: Applying
of cotton-filled
latex-free glove
over eyelid while
holding the eyes
closed for 2mins.
Sleep Test: Client
is placed in a dark
room with eyes
closed for 30 mins.

Positive response
for Ice, Rest, and
Sleep Test:
Complete or
almost complete
resolution of
ptosis.

I. Differential Diagnosis
Myasthenia
Gravis
Post-Synaptic
Weakness
worsens upon
activity
Associated
with
Thymoma
Female>Male;
3:2

Lambert
Eaton
Myasthenic
Syndrome
Pre-Synaptic
Weakness
improves
upon activity
Associated
with Small
Cell Lung
Cancer
Female (2):
Male (1);
Almost equal

J. Prognosis

Slowly progressive

(+) Remissions
and exacerbations
especially within
the 1st year after
onset

Onset of other
systemic disorder
and infections may
start exacerbation
and the MC cause
of crisis

I.

General Healthcare
Management
I. Medication
AChE inhibitor
medication
o Edrophonium
o Neostigmine
o Improvement
of weakness
but does not
treat
underlying
disease
o Administratio
n is tailored
to the
individuals
requirements
throughout
the day.
i.
E.g. difficulty
in swallowing
= before
meals
ii.
Surgical
removal of
thymus
Immunosuppres
ive drugs
o Prednisone
o Azathioprine
Surgical
Thymectomy

II.

B. Physical Therapy
Examination,
Evaluation, and
Diagnosis
a. Points of emphasis
Musculoskeletal
assessment
o MMT of the
facial
muscles,
extraocular,s
houlder and
hip girdle
muscles
Postural
assessment
Gait assessment
Functional
assessment
Cardiopulmonary
assessment
b. Problem List
o Increase
fatigability during
and after
prolonged exertion
o Decrease muscle
strength of the
facial muscles
(orbicularis oculi,
orbicularis oris,
zygomaticus,
levator palbibrae
superioris)
o Decrease muscle
strength of pelvic
and girdle muscles
o Postural changes
o Gait deviations
o Difficulty in doing
ATDEP
o Decrease chest
expansion

c. PT Diagnosis
Impaired motor function and motor integrity associated with
progressive disorders of the neuromuscular junction.
IV. Physical Therapy Prognosis (Plan of Care and Intervention)
Plan of Care
Increase muscular
endurance and
decrease fatigability of
ocular muscles,facial
muscles, masticatory
muscles, shoulder
muscles and pelvic
girdle muscles.

Intervention
Energy conservation
techniques, relaxation
techniques and the use
of assistive devices.

Rationale
To increase muscular
endurance for
prolonged muscle
activities.

Improve Patients
posture
Gait

Postural awareness

Correct the occurrence

of abnormal posture
Correct abnormal gait
pattern

Energy conservation
and activity pacing
Improve chest
expansion
Improve ATDEP/ ADLs

Using of parallel bars

and progress to
assistive devices.
Teaching the patient
For the patient to be
proper body mechanics aware of the specific
consequences of his/
her actions.
Deep and
To promote efficiency
diaphragmatic
in respiration
breathing exercises
ADL exercises that are To improve ADLs
specific to occupation
or needs.