Family, Country | Family A | Family B | Family C | ||||
---|---|---|---|---|---|---|---|
U.S., European ancestry | Canada, East Indian | Spain | |||||
TTN Mutation | p.Gly30150Asp | p.Cys30071Arg | |||||
Patient | (II:3) | (II:4) | (II:6) | (III:1) | (III:3) | (Index) | (Index) |
Age at onset | 29 | 17 | 22 | 13 | 14 | 22 | 36 |
Age at exam | 37 | 33 | 29 | 14 | 14 | 26 | 41 |
Age at wheelchair | 38 | - | 31 | - | - | 32 | - |
Age at respiratory failure | 39 | - | 37 | - | - | 26 | 37 |
Muscles affected at presentation | Proximal LL | Neck, proximal LL | Proximal LL | Proximal LL | Neck, Proximal LL | UL, distal and proximal LL | Proximal LL |
Facial muscles | 5 | 5 | 5 | 5 | 5 | 5 | 5 |
Neck flexion | 4 | 4+ | 4+ | 4+ | 5- | 5 | 4 |
Neck extension | 4 | 5 | 5 | 5 | 5 | 5 | 5 |
Shoulder abduction | 4 | 5 | 3- | 5 | 5- | 4 | 5 |
Shoulder adduction | 5 | 4+ | 4 | 5 | 5- | 4 | 5 |
Elbow flexion | 5- | 5 | 5 | 5 | 5 | 5 | 5 |
Elbow extension | 4+ | 5 | 4 | 5 | 5 | 4 | 5 |
Wrist flexion | 4+ | 5 | 4 | 5 | 5 | 4 | 5 |
Wrist extension | 4+ | 5 | 4 | 5 | 5 | 4 | 4 |
Finger flexion | 4+ | 5 | 4 | 5 | 5 | 5 | 5 |
Finger extension | 4+ | 5 | 4 | 4+ | 5 | 4+ | 4 |
Intrinsic hand muscles | 4+ | 5 | 4+ | 5 | 5 | 4+ | 5 |
Hip flexion | 3- | 4+ | 3- | 4 | 5- | 2 | 3 |
Hip abduction | 4 | 4 | 3- | 5 | 5 | 3 | 4+ |
Knee flexion (hamstrings) | 4 | 4+ | 2 | 5 | 5 | 4 | 5 |
Knee extension (quadriceps) | 4 | 4+ | 3- | 5 | 5 | 2 | 4 |
Ankle dorsiflexion (anterior tibialis) | 4 | 4+ | 2 | 4+ | 4+ | 3 | 4 |
Ankle plantar flexion (gastrocnemius) | 4+ | 4+ | 2+ | 5 | 5 | 5 | 5 |
Toe dorsiflexion | 4 | 4+ | 2 | 4+ | 5 | 3 | 2 |
Toe plantar flexion | 4+ | 4+ | 4+ | 5 | 5 | 5 | 5 |
Gait while ambulant | Waddling | Waddling | Waddling, steppage | Normal | Normal | Steppage | Waddling, steppage |
Wasted muscles | Sterno-mastoid, trapezius | Sterno-mastoid, trapezius | Sterno-mastoid, trapezius | none | none | none | none |
Bilateral calf hypertrophy | yes | yes | yes | yes | no | yes | no |
Pulmonary function | restriction | normal | restriction | normal | normal | Severe restriction | Severe restriction |
Dyspnea | yes | no | yes | no | no | yes | yes |
Cardiomyopathy | no | no | no | no | no | no | no |
CK levels | nt | nt | 2-fold-increased | nt | normal | Mildly-increased | 2-fold-increased |
EMG - Myogenic with spontaneous activity | nt | nt | yes | nt | nt | yes | yes |