This document discusses dystrophia myotonica, an autosomal dominant disorder characterized by progressive muscle weakness and degeneration. Key features include facial muscle wasting, cataracts, cardiac arrhythmias, respiratory infections, diabetes, and hypogonadism with gynecomastia. Physical exam findings include myotonia on hand grip, muscle wasting, loss of axillary and pubic hair, gynecomastia, irregular heart sounds, and signs of diabetes and hypogonadism. Blood tests and electromyography can assist in diagnosis. While there is no cure, treatment focuses on physical, respiratory, and speech therapy, orthopedic devices, corticosteroids, anticonvulsants,
8. • Adult onset
• Autosomal dominant disorder
• Characterized by progrssive weaness and
degeneration of skeletal muscle that control
movement
Dystrophia myotonica
9. • History taking & PE
– Facial features:
1. Frontal balding
2. Wasting of temporalis
3. Bilateral proptosis
4. Wasting of masseter
5. Elongated face
6. Bifacial weakness
7. Pouting of lips
8. Wasting of sternocleidomastoid-swan neck
– Muscle
• wasting
• Weakness : site, onset, progression, severity/function affected (SOPS)
• Myotonia : grip object, difficult to release/ hard to get up from seated position
– Complications
• Eyes : cataract
• CVS : arrhythmia (heart block), hear failure
• Respi : lung infection
• Endocrine : DM
• Hypogonadism : gynaecomastia, loss of axillary and pubic hair
– Family history
– RULE OUT GUILLAIN BARRE, MYASTHENIA GRAVIS, FASCIOSCAPULOHUMERAL DYSTROPHY
10. *myotonia – neuromuscular disorder where the
relaxation of muscle is impaired. Repeated effort
will be needed to relax the muscle
*hypogonadism – reduced functional activity of the
gonads, thus reduced the sex hormone biosynthesis
*gynaecomastia is results of imbalance between
estrogen: testosterone ratio, incr estrogen will
stimulate breast glandular tissue hypertrophy.
11. PE (express pg 4)
1. SHAKE HAND-slow relaxation of muscle
2. General inspection- face features & muscle wasting
3. Hands
– small muscle wasting
– percussion of thenar eminence show abduction of thumb and slow relaxation
– RADIAL PULSE
– tone, power, reflex, sensory, proprioception, coordination
4. Eyes – cataract
5. Neck – wasting of sternocleidomastoid (swan neck)
6. CHEST
– Axillary hair- loss dt hypogonadism
– breast-gynaecomastia
– CVS- irregular rhythm and intensity of s1 s2 (atrial fibrillation), gallop rhythm
& basal lung crackles(heart failure)
7. End by doing fundoscopy (diabetic retinopathy), pubic hair
(hypogonadism), blood glucose level
12. • IX- serum creatinine kinase, electromyography (EMG)
• TX
– There is no specific treatment to stop or reverse any form of MD.
– Treatment may include physical therapy, respiratory therapy,
speech therapy, orthopedic appliances used for support, and
corrective orthopedic surgery.
– Drug therapy includes corticosteroids to slow muscle degeneration
– Anticonvulsants(phenytoin) to control seizures and some muscle
activity,
– immunosuppressants to delay some damage to dying muscle cells
– antibiotics to fight respiratory infections.
– Some individuals may benefit from occupational therapy and
assistive technology.
– Some patients may need assisted ventilation to treat respiratory
muscle weakness
– pacemaker for cardiac abnormalities.