Sex
|
F
|
M
|
M
|
M
|
M
|
F
|
F
|
M
|
F
|
Age at onset
|
50 y
|
30 y
|
27 y
|
10 y
|
20 y
|
16 y
|
11 y
|
45 y
|
6 y
|
Onset symptoms
| | | | | |
Difficulties in climbing stairs
|
Impossibility to jump
|
Difficulties in climbing stairs
|
Bilateral foot drop
|
Age last seen
|
79 y
|
52 y
|
52 y
|
47 y
|
22 y
|
39 y
|
40 y (now 59 y)
|
57 y
|
39 y
|
Upper limb proximal weakness
|
severe
|
medium grade
|
severe
|
severe
|
absent
|
severe
|
severe
|
absent
|
medium grade
|
Upper limb distal weakness
|
medium grade
|
moderate
|
medium grade
|
severe
|
absent
|
medium grade
|
severe
|
absent
|
medium grade
|
Lower limb proximal weakness
|
severe
|
medium grade
|
severe
|
severe
|
absent
|
severe
|
severe
|
medium grade
|
severe
|
Lower limb distal weakness
|
severe
|
medium grade
|
severe
|
severe
|
moderate
|
severe
|
severe
|
medium grade
|
severe
|
Ambulant
|
No
|
Yes
|
Yes
|
No
|
Yes
|
No (lost at 30 year)
|
No (lost at 40 year)
|
Yes
|
No (lost at 37 years)
|
Facial weakness
|
moderate
|
moderate
|
absent
|
moderate
|
absent
|
absent
|
absent
|
absent
|
absent
|
Dysarthria
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
No
|
Yes
|
No
|
No
|
Dysphagia
|
Yes
|
Yes
|
Yes
|
Yes
|
No
|
No (occasional episodes in the last few months)
|
Yes (gastrostomy at age 58)
|
No
|
No
|
Dysphonia
|
Yes
|
No
|
Yes
|
Yes
|
No
|
No
|
No
|
No
|
No
|
Tongue atrophy
|
Yes
|
No
|
No
|
Yes
|
No
|
No
|
No
|
No
|
No
|
Other clinical features
|
Dyspnea Areflexia
|
Areflexia Pes cavus
|
Dyspnea Areflexia
|
Dyspnea; Contractures: thumb-wrist-elbow Areflexia
|
Hyporeflexia
|
Contractures (bilateral ankle, left knee), mild non progressive respiratory involvement
|
Since 57 nocturnal and daily non invasive ventilation, cough mechanical assistance,
|
Contractures (mild bilateral ankle)
|
At 17 years Achille tendons surgical correction, mild respiratory involvement
|
Muscle MRI
|
n.p.
|
Diffuse substitution of lower limb-girdle muscles and posterior eg muscles
|
Diffuse substitution of lower limb-girdle muscles and posterior leg muscles
|
n.p.
|
n.p.
|
Diffuse substitution of lower limb-girdle muscles and posterior leg muscles
|
Diffuse substitution of lower limb-girdle muscles and posterior leg muscles
|
Substitution of adductor magnus, femoral biceps, gastrocnemii
|
Thigh and leg diffuse substitution (relatively less relevant in left semitendinosus, biceps and soleus)
|
CK
|
n.p.
|
4x
|
1.5x
|
n.p.
|
n.p.
|
normal
|
1.2x
|
1.5x
|
1.1x
|
EMG
|
n.p.
|
Myogenic pattern; mild neurogenic changes
|
Myogenic pattern
|
Myogenic pattern
|
Myogenic pattern
|
Myogenic pattern and spontaneous activity
|
Myogenic pattern and spontaneous activity
|
Myogenic pattern
|
Myogenic pattern
|
Muscle biopsy
|
n.p.
|
Dystrophic, rimmed vacuoles
|
Dystrophic, rimmed vacuoles
|
Dystrophic, rimmed vacuoles
|
n.p.
|
Dystrophic, rimmed vacuoles
|
Dystrophic, rimmed vacuoles
|
Myopathic, rimmed vacuoles
|
Dystrophic, rimmed vacuoles
|