Presented by G. Mansa Shambhavi
Roll
number 194.
8th semester.
I have been given this case to solve in an attempt to
understand the topic of Paraparesis.
The patient’s entire clinical data including history,
clinical findings and other investigations is given below, followed by a visual
discussion.
Click here for the patient's clinical data.
Click here for the visual discussion.
The chief complaints given by the patient:
Ø
Weakness of bilateral lower limbs
since 20 days.
Ø
Edema of non-pitting type in bilateral
lower limbs. (cardiomyopathy)
Ø
Difficulty in squatting and getting
up from squatting position. (proximal lower limb involvement)
Ø
Difficulty in wearing and holding
chappals. (distal lower limb involvement)
On examination,
o
General examination:
§
The patient was conscious, coherent and
cooperative.
§
Moderately built and nourished.
§
No signs of pallor, icterus,
cyanosis, clubbing, lymphadenopathy, edema.
o
Systemic examination:
Cardiovascular system:
§
S1, S2 heard.
§
No added murmurs.
Respiratory system:
§
Normal vesicular breath sounds heard.
§
Bilateral airway entry present.
Central Nervous System:
§
Cranial nerves: intact.
§
Motor system: normal tone, reflexes
absent.
§
Sensory system: normal.
§
No meningeal and cerebellar signs.
The patient
is observed to have a waddling or duck like gait, which occurs due to weakness
of proximal muscles of the pelvic girdle. It is also known as Myopathic
gait.
The patient
is also observed to use Gower’s sign to get up to the standing
position from squatting position. This indicates proximal muscle weakness (of
hip and thighs).
Investigations:
·
CBP: Normocytic normochromic with leukocytosis.
·
CUE: Presence of albumin and pus cells
is observed.
·
RFT: Increased levels of urea, creatinine
and uric acid.
·
Muscle biopsy was conducted.
A Differential diagnosis of CIDP (Chronic Inflammatory Demyelinating Polyneuropathy), Polymyositis or muscular dystrophy was made.
The patient’s condition is considered to be a myopathy
rather than a neuropathy due to the following differences:
|
MYOPATHY |
NEUROPATHY |
|
Associated
with proximal weakness. |
Associated
with distal weakness. |
|
Sensory
involvement is not present. |
Sensory
involvement is present. |
|
Motor
involvement is seen. |
Motor
involvement is not seen. |
|
Reflexes
are preserved till late. |
Reflexes
are lost early. |
|
Contractures
may be present. |
Fasciculations
may be present. |
|
May
be associated with myocardial dysfunction or tenderness. |
Cranial
nerve involvement or autonomic dysfunction may be present. |
Myopathies are
neuromuscular disorders in which the primary symptom is muscle weakness due to
dysfunction of muscle fiber.
Other symptoms of myopathy can include muscle cramps,
stiffness, and spasm.
Myopathies can be inherited or acquired.
Ø
Inherited Myopathies: Muscular
dystrophies.
Ø
Acquired Myopathies: Common muscle
cramps.
The increased levels of creatine kinase and the muscle
biopsy lead towards the probability of the condition to be a Muscular dystrophy
and more likely, a Dystrophinopathy.
Muscular dystrophies are
a group of diseases which cause increased weakening and breakdown of skeletal
muscles, leading to an increased level of disability associated with atrophy
(wasting).
Some types of muscular dystrophies may eventually
affect the muscles of heart and respiratory muscles severely, making the
condition sometimes Life threatening.
Muscular dystrophies are a group
of 30 inherited genetic disorders mainly classified in 9 types:
o
Duchenne muscular dystrophy (Most
common type).
o
Becker muscular dystrophy.
o
Congenital muscular dystrophy.
o
Distal muscular dystrophy.
o
Emery–Dreyfuss muscular dystrophy.
o
Facioscapulohumeral muscular
dystrophy.
o
Limb-girdle muscular dystrophy.
o
myotonic dystrophy.
o
Oculopharyngeal muscular dystrophy.
In the above classification, Duchene muscular dystrophy
and Becker muscular dystrophy are the possible (2 out of 4) dystrophinopathies
that could be associated with the patient’s condition.
Duchenne muscular dystrophy (DMD):
It is an X-linked recessive inherited disorder characterized
by progressive muscle degeneration and weakness caused due to the alterations
of a protein called dystrophin that helps to keep the muscle
cells intact and protects them from breaking down when exposed to enzymes.
In DMD, mutations in the genes may completely prevent the production of any functional dystrophin.
Becker muscular dystrophy (BMD):
It is an X-linked recessive inherited disorder
characterized by muscle weakness, mainly in the legs and pelvis. It is slowly
progressive.
It is caused by mutations in the dystrophin gene.
In BMD, the mutations in dystrophin gene lead to an
abnormal version of dystrophin which retains some function.
(The provisional diagnosis was made to be BMD.)
Further investigations to confirm the diagnosis:
·
Electromyography.
· Genetic testing.
Treatment:
There is no known cure for muscular dystrophy.
Although, some measures can be taken to relieve some
of the patient’s symptoms and maximize the patient’s quality of life.
§
Corticosteroids: increase muscle strength
to an extent and delay progression of the condition.
§
Physical therapy: helps to maintain
the muscle strength.
§
Medications to treat associated heart
problems.
§
Surgery- to treat postural deformities.
§
Use of orthopedic support: braces to
support weakened muscles. (ankle braces etc.)
§
Immunosuppresants: slow the
progression of BMD.
§
Assisted ventilation: in patients
where the disease affects the respiratory muscles.
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