3. WHAT TO LOOK FOR WHEN ASSESING?
ONSET- sudden/ gradual, adult/childhood
RATE OF PROGRESSION
DISTRIBUTION
ANY OTHER SYSTEM INVOLVEMENT- Cardiac, pulmonary, CNS, Speech, hearing
4.
5. Common Clinical features
Proximal more than distal muscle weakness
Contractures may occur
Cardiomyopathy
Respiratory complications
6. Muscular dystrophies
Muscular dystrophy most often results from defective or absent
glycoproteins in the muscle membrane.
This leads to muscle destruction and replacement of the
contractile tissue with non contractile tissue.
7. I. Becker’s muscular dystrophy
Mutation of the dystrophin gene causing
reduced dystrophin production.
Onset – 11- 15 years
Rate of progression- Slowly progressing
Weakness of respiratory muscles and
cardiomyopathy
Prognosis- life expectation- 4th decade
8. Limb girdle muscular dystrophy
Onset- 8-15 years
Rate of progression- early onset rapidly
progressing
Late onset- slowly progressing
Both cardiac and pulmonary complications
common.
Prognosis-
Early onset- wheelchair bound and death with
respiratory complications
Late onset- non life threatening and remain
ambulant
9. Facioscapulohumeral muscular dystrophy
Onset- teenage
Rate of progression- slowly progressive
with certain periods of rapid increase in
weakness
Hearing loss, speech and swallowing
difficulty.
Rare chances of cardiomyopathy and
respiratory complications.
Prognosis- normal life expectancy
10. Metabolic myopathies
People with metabolic myopathies lack certain enzymes
involved in providing energy that helps muscles contract.
They can be classified as:
1. mitochondrial myopathies
2. glycogen storage disease(GSD)
3. Fatty acid oxidation defects (FAODs)
11. 1. Mitochondrial myopathy
Genetic mutations causes fault in aerobic cellular respiration hence, inability to produce energy.
Build-up of raw materials initiation of anaerobic pathways
By products- lactic acid build-up
CELLULAR DAMAGE
15. BODY STRUCTURE IMPAIRED CLINICAL REASONING
Structures Related to Movement muscles
Structures of the Cardiovascular, and Respiratory
Systems
-primary
-accessory
muscles of
respiration
Structures Involved in Voice and Speech
The Eye, Ear and Related Structures
Structures Related to the Digestive system
Skin and Related Structures
16. BODY FUNCTIONS IMPAIRED CLINICAL REASONING
Neuromusculoskeletal and Movement-
related Functions
Functions of the Cardiovascular,
Respiratory Systems
Voice and Speech Functions
Sensory Functions and Pain
Functions of the Digestive, Metabolic, and
Endocrine Systems
Mental function
Functions of the Skin and Related Structures
18. EARLY PROBLEMS
MUSCULAR WEAKNESS
REDUCED MUSCULAR ENDURANCE
TIGHTNESS
REDUCED CARIOVASCULAR ENDURANCE
DIFFICULTY IN MOBILITY
19. MUSCULAR WEAKNESS and REDUCED MUSCULAR ENDURANCE
SUBMAXIMAL EXERCISE TRAINING
F – 3-4 DAYS PER WEEK
I- 50% 1 RM
D- 30 MINS
T- Circuit training, avoid eccentric exercises
RATIONALE: MUSCULAR ADAPTATIONS TO EXERCISE TRAINING HELPS REDUCE THE
RATE OF MUSCLE LOSS