Phenotype #0000358651

Individual ID 00473856
Associated disease SMA
Phenotype details onset 11y with difficulty walking; Difficulty running & climbing steps; Hand muscle spasm; Distal & proximal muscle weakness in legs>arms, mild; Wasting in distal of legs; Tremor in hands; Feet drop; Claw hallux, bilateral; Pes cavus; Abnormal gait; EMG-NCV: chronic ant. horn cell, mostly lower limbs.
Diagnosis/Initial spinal myscular atrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 20y (20 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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