Muscle

Contraction
& Muscle Dystrophy
I. Definition:

● group of more than 160 different neuromuscular disorders characterized by progressive deterioration of muscle
strength.
● considered as a group of genetic diseases that is caused by genetic mutations that interfere with the production
of muscle proteins that are needed to build and maintain healthy muscles.
● the main forms may affect up to 1 in every 5,000 males.
● it has seven types: Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Myotonic muscular
dystrophy (DM), Congenital muscular dystrophy (CMD), Facioscapulohumeral muscular dystrophy (FSHD),
Limb-girdle muscular dystrophy (LGMD), Limb-girdle muscular dystrophy (LGMD),
 Muscular Dystrophy Types:
Signs and
Types Parts of body affected Causes Patients affected
Symptoms

1. Duchenne Progressive muscle Lack of Dystrophin ● Symptom onset ● Primarily affect

muscular degeneration and (instability of sacromere is in early boys
dystrophy (DMD) weakness, heart muscles cells - prolems in childhood ● Rare in girls
contraction) (usually 2-3 y/o)

2. Becker muscular Voluntary muscles and Lack of Dystrophin ● Later onset and ● Between ages 5
dystrophy (BMD) heart muscles milder symptoms and 15
than DMD

3.Myotonic muscular Muscles and other parts Mutations in DMPK ● Most common
dystrophy (DM) of the body (abnormal relaxation type with 10 cases
and contraction; per 100, 000
disrupted individuals
communication) ● Common in adults
and CNBP Gene of European
(protein production) ancestry
 Parts of body Signs and
Types Causes Patients affected
affected Symptoms

4. Congenital muscular Voluntary muscles Mutations in ● Obvious from Affect boys and girls:
dystrophy (CMD) glycoproteins in birth or before ● Newborn, or
extracellular matrix the age 2 years ● Before age of 2
(disrupts normal cell ● Some forms y/o
functioning) progress slowly

5. Facioscapulohumeral ● Muscles of face, Abnormal expression of Third most common

muscular dystrophy shoulder blades, DUX 4 gene (short type which have 4
(FSHD) and upper arms, segments and unwanted cases per 100, 000
● Rarely: heart production) individuals
and respiratory
system

6. Limb-girdle muscular Proximal muscles Genetic mutation of Fourth most common

dystrophy (LGMD) around the hips and CAPN3 and DYSF gene type- 2 cases in every
shoulders 100, 000 indivuals
(sacromeres)

7. Oculopharyngeal Affects first the eyelids Mutations of PABN1 Progression is slow Between the ages of
muscular dystrophy and throat then the gene (clumping of cells) 40-70 y/o
(OPMD) facial and limb muscles
II. Causation: Skeletal Muscle Contraction

Skeletal Muscle Fibers within a muscle are connected to the Nervous System.
II. Causation: Skeletal Muscle Contraction

The structures within a single skeletal muscle fiber.

II. Causation: Skeletal Muscle Contraction
1. Regulatory proteins in actin
Myofilament cover the
myosin-binding sites.
2. Sarcoplasmic reticulum
releases calcium ions from
its intracellular storage
areas.
3. Calcium ions will bind to the
regulatory proteins.
4. The regulatory proteins will
change shape and position.
5. The myosin-binding sites will
be exposed.
6. The myosin heads will attach
to actin myofilament.
7. The myosin heads will pull the
actin myofilament towards the
middle.
8. ATP provides energy for its
continuous attachment and
detachment.
II. Causation: Skeletal Muscle Contraction

VS.

Relaxed sarcomere Contracted sarcomere

II. Causation: Cardiac Muscle Contraction

Differences from skeletal muscles contraction:

● Presence of intercalated discs.
● The intrinsic conduction system or nodal system.
II. Causation: Smooth Muscle Contraction

Differences from the striated muscles:

● Calcium ions activate the kinases which will enable the myosin heads to conformationally change its shape to
form cross bridges.
● No striations.
● Regulated by Extrinsic Control (Neuronal & Humoral Control) and Intrinsic Control ( Myogenic Autoregulation
& Local Humoral Control).

VS.

Relaxed Smooth Muscle Contracted Smooth Muscle

Interventions
No cure for Muscle Dystrophy

Physical Therapies Medications:

Occupational Therapies Corticosteroids

Speech Therapies Angiotensin Converting Enzyme

Respiratory Therapies (ACE) Inhibitors and Beta - blockers

Corrective Surgeries Consultations

III. Relationship to previous topic/s discussed
● Nervous System
● Tissues:

Smooth Muscle Tissue

Skeletal Muscle Tissue

● Reflexes
IV. Images/ graphical representations of cellular/histological abnormalities associated with disease conditions; OR actions
/effects of the interventions toward the cells/tissues

Effect of Muscular Dystrophy in the Skeletal Muscle

Effect of Muscular Dystrophy in Smooth Muscle
Effect of Muscular Dystrophy in the Cardiac Muscle
Signs and Symptoms

TYPE SIGNS AND SYMPTOMS

Duchenne Muscular ➔ Muscle weakness, frequent falls, large calf muscles,

Dystrophy (DMD) waddling gait, weakness in lower leg muscles,
causing difficulty in jumping and running, lumbar
lordosis, scoliosis

Becker’s Muscular ➔ Similar with the DMD but it progresses slowly and it is
Dystrophy (BMD) less predictable
➔ Heart involvement

Congenital Muscular ➔ General muscle weakness and joint deformities

Dystrophy (CMD) ➔ spinal curvature, respiratory insufficiency, intellectual
and/or learning disabilities, eye defects
 TYPE SIGNS AND SYMPTOMS

Myotonic Dystrophy (MD) ➔ Weakening of voluntary muscles, difficulties in controlling arms and
or Steinert Disease legs, in breathing when asleep, weakening of face, neck, head, heart
muscles
➔ Problems in involuntary muscles (gastrointestinal tract and uterus)
➔ dizziness or fainting, difficulty in sleeping at night, daytime sleepiness,
early development of cataracts, and frontal balding in men

Facioscapulohumeral ➔ weakness and atrophy of the muscles around the eyes and
Muscular Dystrophy mouth, shoulders, abdominal muscles, upper arms, and
(FSHD) or
lower legs
Landouzy-Dejerine disease

Oculopharyngeal Muscular ➔ difficulty in swallowing and keeping eyes open

Dystrophy (OPMD) ➔ Mobility problems
Limb-Girdle Dystrophy ➔ Problems in limb and girdle
(LGMD) ➔ weakness of hip and leg muscles, weakness in the shoulder area,
and difficulty in stretching arms, weakness of the heart muscles,
muscle cramps, and abnormalities in the distal and calf muscles