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Table 1 Clinical, neurophysiological, pathological and radiological features of affected individuals

From: Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Patient ID II-6 III-3 III-5 III-8 IV-4 Patient 1s Patient 2s Patient 3s Patient 4s
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
  1. n.p. not performed
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Acta Neuropathologica Communications

ISSN: 2051-5960

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