
Mamadou
Symptoms started at age 7 years, in the form of tremors of the extremities when trying to pick up objects.
Symptoms started at age 7 years, in the form of tremors of the extremities when trying to pick up objects.
Symptoms started at 7 years of age in the form of hand tremors when trying to pick up objects. Around age 10, parents reported progressive worsening …
He was born from a consanguineous marriage and referred to us for familial myoclonic epilepsy. Delivery was difficult and at birth he did not cry. …
At the age 2 years, her grandmother found that she was prone to fractures. Since age two years she fractured her right clavicle, her left clavicle, …
At the age 2 years, he had an unspecified illness with diarrhea and fever, which was followed by lower limb weakness. Walking became difficult and …
At 8 years of age he presented with swelling in both arms and legs, followed by leg weakness causing difficulty walking, and over time by muscle …
Since 6 months of age, the parents noticed that she did not react to sound and had blue eyes. Later, it became apparent to them that she doesn't hear.
Four years ago, A's relatives noticed abnormal movements of his head, which worsened gradually and later reached the four limbs. This causes falls …
Symptoms started 10 years ago (age 11 years) with an episode of fever attributed to malaria, followed by pain in the legs and a gait disorder. …
Since birth, parents have noticed deformities in hands and toes. These deformities were painless and didn't cause any difficulties with walking. …
Parents noted that he was not sensitive to burns since about age 2-3 years. He burned himself and broken his legs several times without feeling pain. …
He was born in 2011 and at first he seemed healthy. But after 1.5 days he suddenly became unconscious and very ill. His sodium levels were not normal.