Hoffman Disease

Question 1

Wedding Hoffman Disease

Answer 1

AR, Neuromascular, AHC, SMA1

Question 2

What types of nerves got affected?

Answer 2

LMN ( spinal and bulbar )
Sensation is not affected
Motor neurones of 3,4,6 CN are not affected (eyes are speared)
Sacral motor nerves are not affected ( No incontinence)

Question 3

CP

Answer 3

Muscle weakness (flaccid paralysis) + hypotonia +bulbar syx.
* Severe weakness before 6 months of age
Floppiness of limbs and trunk (proximal+intercostal muscles ) The child never sit or stand
Bulbar:
Impaired breathing + Respa failure
Difficult suckling and swallowing ( increased risk of aspiration)
Weak cry + cough.

Question 4

Diagnosis

Answer 4

Genetic testing

EMG

Question 5

Tx+prognosis

Answer 5

Tx: physical therapy +mechanical devices to help eating
Usually die within 2 years

The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness) and aspiration pneumonia (due to bulbar weakness)!