[Somatizing patient--a challenge for general practitioner].

We report a large family with a mild form of autosomal dominant nemaline myopathy and a new phenotype. Onset of symptoms was in infancy with hypotonia and motor delay. Weakness involved neck flexors, abdominal and proximal limb muscles. There was no bulbar, respiratory or foot dorsiflexion weakness and no slowness in movement. Patients had remarkably good physical endurance and no limitation in daily activities, but were slow runners since childhood. Nemaline rods were seen in less than 5% of muscle fibres. No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found.

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PubMed2006

Two first-degree relatives with perimesencephalic nonaneurysmal hemorrhage.

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PubMed2006

First report of prevalence of non-syndromic hereditary prosopagnosia (HPA).

Acquired prosopagnosia (PA) is a rare condition after, for example, a stroke or brain injury. The congenital form of PA is generally considered to be even less common. Beside a few single case reports and anecdotal mentioning of familial cases no data on the epidemiology exists. Following a questionnaire-based screening in local secondary schools and at our medical faculty, candidates suspicious for PA underwent a semi-structured interview followed by examinations of first degree relatives. Among 689 local pupils and medical students of our university we found 17 with congenital PA. This corresponds to a prevalence rate of 2.47% (95% CI 1.31-3.63). The frequency is among the highest known for a monogenic disorder. All those index subjects (n = 14) of the target group who agreed to further examinations of their family members had other first degree relatives with the same cognitive disorder. This study provides epidemiological evidence that congenital PA is a very common cognitive disorder which almost always runs in families. The segregation pattern of this hereditary prosopagnosia (HPA) is fully compatible with autosomal dominant inheritance.

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