Table 2 Phenotype of Swiss dysferlinopathy patients
From: Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Family-patient | A-1 | A-2 | B-3 | C-4 | C-5 | C-7 | C-8 | D-9 | E-12 | F-13 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age at onset | 23 | 28 | 15 | 17 | 17 | 14 | 16 | 16 | 20 | 21 | ||||||
Age at examination/years after onset | 46/23 | 55/32 | 45/17 | 52/24 | 30/15 | 20/3 | 27/11 | 18 /1 | 26/9 | 15/1 | 18/4 | 44/28 | 36/20 | 27/7 | 31/11 | 21/0 |
Facial muscles | 5/5 | 5/5 | nd | nd | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 |
Head extension | 5/5 | 5/5 | 5/5 | 5/5 | nd | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 4/4 | nd | 5/5 | nd | 5/5 |
Shoulder elevation | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | 5/5 | nd | nd | nd | nd | 5/5 |
External arm rotation | 3/3 | 0/0 | 4+/4+ | 5-/5- | nd | 5/5 | nd | nd | nd | 5/5 | nd | 0/0 | nd | nd | nd | nd |
Internal arm rotation | 3/3 | nd | nd | nd | nd | 5/5 | nd | nd | nd | 5/5 | nd | nd | nd | nd | nd | nd |
Arm adduction | 3/3 | 0/0 | nd | nd | 3/3 | 5/5 | nd | nd | nd | 5/5 | 4/4 | nd | nd | 5/5 | 4+/4+ | nd |
Arm abduction | 1/1 | 0/0 | 4+/4+ | 5/5 | 3/3 | 5/5 | 5-/5- | 5/5 | 5/5 | 5/5 | 4/5 | 0/0 | 4/4 | 5/5 | 4-/4- | 5/5 |
Arm flexion | nd | 0/0 | 4+/4+ | 4/4 | 4/4 | 5/5 | 5-/5- | 5/5 | 5/5 | 5/5 | 4/4 | 0/0 | 4/4 | 5/5 | 4-/4- | 5/5 |
Arm extension | 1/1 | 1/1 | 4+/4+ | 4+/4+ | 3/3 | 5/5 | 5-/5- | 5/5 | 5/5 | 5/5 | 4+/4+ | 0/0 | 4/4 | 5/5 | 4/4 | 5/5 |
Wrist supination | 4+/4 | nd | nd | nd | nd | nd | nd | nd | 5/5 | 5/5 | nd | nd | nd | nd | nd | nd |
Wrist pronation | 4+/3 | 3/3 | 4+/4+ | 5/5 | nd | nd | nd | nd | 5/5 | 5/5 | nd | nd | nd | nd | nd | nd |
Hand flexion | nd | 3+/3+ | 4+/4+ | 5/5 | 4/4 | 5/5 | 5-/5- | 5/5 | 5/5 | 5/5 | 4/4 | 4+/4 | 5-/5- | 5/5 | 4+/4+ | 5/5 |
Finger flexion | 3/3 | 3-/3- | 4+/4+ | 4/4 | 4/4 | 5/5 | 5-/5- | 5/5 | 5/5 | 5/5 | 5/5 | 4+/4 | 5-/5- | 5/5 | 4+/4+ | 5/5 |
Hand extension | 5/5 | 4+/4 | nd | nd | 4/4 | 5/5 | 5-/5- | 5/5 | 4/4 | 5/5 | 4/4 | 4+/4 | 5-/5- | 5/5 | 4+/4+ | 5/5 |
Finger extension | 5/5 | 4-/4- | 5-/5- | 5/5 | 4/4 | 5/5 | 5-/5- | 5/5 | 4/4 | 5/5 | 4/4 | 4+/4 | 5-/5- | 5/5 | 4+/4+ | 5/5 |
Thumb abduction | nd | 4/4 | 4+/4+ | 4+/4+ | nd | 5/5 | nd | nd | nd | 5/5 | nd | nd | nd | nd | nd | nd |
Thumb extension | 5/5 | nd | nd | nd | nd | 5/5 | nd | nd | nd | 5/5 | nd | nd | nd | nd | nd | nd |
Hip adduction | 2/2 | 0/0 | 3/3 | 2+/2+ | 4/4 | 5/5 | nd | 5-/5- | nd | 5/5 | 2/2 | nd | 4/4 | nd | 4+/4+ | nd |
Hip extension | 5/5 | 4+/4+ | 4+/4+ | 4-/4- | nd | 4/4 | 4-/4- | 5-/5- | nd | 5/5 | 4/4 | 1/1 | 4/4 | nd | 4-/4- | 5/5 |
Knee extension | 2/2 | 0/0 | 2+/2 | 2/2 | 2/2 | 5/5 | 4/4 | 5/5 | 5-/5- | 5/5 | 4/4 | 3/3 | 3/3 | 5/5 | 4/4 | 5/5 |
Knee flexion | 2/2 | 0/0 | 3+/3+ | 3-/3- | 2/2 | 5/5 | 4-/4- | 5/5 | 3+/3+ | 5/5 | 4/4 | 4/4 | 4/4 | 5/5 | 4-/4- | 5/5 |
Foot extension | 0/0 | 0/0 | 2/2 | 2/2 | 3/3 | 5/5 | 2/2 | 5/5 | 2/2 | 4/4 | 4/4 | 0/0 | 5-/5- | 4/4 | 4/4 | 4/4 |
Toe extension | 0/0 | 0/0 | 3-/3- | nd | nd | nd | nd | nd | nd | nd | nd | 1/1 | nd | 3/3 | nd | nd |
Foot flexion | 5/5 | 3/3 | 1/1 | 1/1 | 1/1 | 4-/4 | 2/1 | 5-/5- | 3/3 | 4/4 | 3/3 | 1/1 | 4+/4+ | 4/4 | 4/4 | 3/4 |
Toe flexion | 4+/4+ | 3/3 | 1/1 | 1/1 | nd | nd | nd | nd | nd | nd | nd | 4/4 | nd | 4-/4- | nd | nd |