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The UDNI together with the Wilhelm Foundation will offer undiagnosed patients (adults and children), who have been evaluated at an UDP and still are undiagnosed to share your story.

This is a tiny opportunity to a diagnosis. But if you still are undiagnosed donít hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNIís website work all day long to solve the undiagnosed diseases and perhaps one of them find your childís story like one of the doctorís patient. If so, he will become interested and will contact you or your doctor at the UDP. We canít promise anything, but this is a new chance to a diagnosis.

This area is under the Wilhelm Foundation responsibility. In this section Wilhelm Foundation will collect some information (phenotypic, genotypic, picture) from undiagnosed rare patients.
For this purpose a dedicated ethics-Informed Assent as well as a UDNI Parental Consent were developed and apporved during the 6th Conference of Undiagnosed Diseases Network International (19-21 June 2018, Naples) by all UDNI Board Members and participants. Before adding information on a patient these consents have to be download and signed by the Responsibles of patient.

Patients must have undergone a specific visit in a dedicated undiagnosed clinical site before being added in the present section.

  • Participant 116

    Participant 116

    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 with jerking movements in her arms and cognitive decline (problems with calculations).

  • Participant 115

    Participant 115

    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. His mother reports early motor development delays (he walked after 2 years)

  • Participant 114

    Participant 114

    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, her left humerus (three times), her right arm, her left leg (twice).

  • Participant 113

    Participant 113

    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 painful.

  • Participant 112

    Participant 112

    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 atrophy in all limbs.

  • Participant 111

    Participant 111

    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.

  • Participant 110

    Participant 110

    Four years ago, A's relatives noticed abnormal movements of his head, which worsened gradually and later reached the four limbs. This causes falls and problems with walking, and also affects his speech.

  • Participant 109

    Participant 109

    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. Symptoms worsened, with progressive loss of function of his legs, such that by one month after the initial

  • Participant 108

    Participant 108

    Since birth, parents have noticed deformities in hands and toes. These deformities were painless and didn't cause any difficulties with walking. However, running has been always difficult. He has no apparent intellectual disability as other siblings

  • Participant 107

    Participant 107

    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 became stubborn, and wasn't afraid of being beaten. He has had many mutilations in the toes.

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