Phenotype #0000297469

Individual ID 00404911
Associated disease CMT
Phenotype details no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; reduced combined motor action potential, preserved sensory nerve action potential; EMG chronic neurogenic changes; MRI brain normal; MRI lower limb severe atrophy, fatty infiltration
Diagnosis/Initial spinal muscular atrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMTRIC
Age/Examination -
Age/Diagnosis -
Age/Onset 8y
Phenotype/Onset proximal lower limb weakness
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-03-10 18:10:34 +01:00 (CET)
Date last edited N/A

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