Key Features: Mito and Neuromuscular

Question 1

Mito Disorders

Answer 1

Poor growth, exercise intolerance, hearing/vision loss, ID/learning, seizures, strokes

Question 2

Barth

Answer 2

DCM and neutropenia

Question 3

Leigh

Answer 3

Rapid and lethal lactic acidosis and cardiopulmonary failure

Question 4

POLG

Answer 4

Psych issues, parkinsonism/chorea, standard mito symptoms

Question 5

Pyruvate Dehydrogenase

Answer 5

Standard mito symptoms, Ketogenic diet helps treat

Question 6

Mito Deletion Disorders

Answer 6

KSS, Pearson, CPEO, Leigh

Question 7

ALS

Answer 7

Stephen Hawking – motor deterioration

Question 8

CMT

Answer 8

Foot drop, muscle wasting

Question 9

DMD

Answer 9

Muscle wasting/early death in boys, out-of-frame deletions

Question 10

BMD

Answer 10

Muscle wasting, less severe than DMD, in-frame deletions

Question 11

FSHD

Answer 11

Winged scapula, slowly progressive, due to large deletions on chromosome 4q35

Question 12

Limb-Girdle

Answer 12

Late (10-30) onset muscle wasting

Question 13

Nemaline Myopathy

Answer 13

AJ/Amish, muscle weakness/wasting, severe congenital with early death to mild

Question 14

SMA Type I

Answer 14

Lack of motor development, lethal by age 2, SMN2 can make up for absent SMN1, more copies of SMN2, the less severe the presentation

Question 15

Walker-Warburg

Answer 15

Most severe congenital muscular dystrophy, death by age 3