novel autosomal recessive huntington disease like neurodegenerative disorder in a Saudi family

To study a saudi family affected by an unusual neurological disorder, in order to clarify its different clinical, investigational and genetic aspects. Patients were identified through a preliminary clinical examination of all family members and their relative. Then they underwent a meticulous clinical assessment and detailed general and metabolic investigations, neurphysiological and radiological test, and genetic analysis. Five siblings suffered from an autosomal recessive disorder simulating clinically and radiologically the rare juvenile Huntington's disease. The disease manifests at an early age with mental deterioration, speech disturbance, dystonia and other extrapyramidal pyramidal features. Of genetic studies excluded Huntington's disease, they also indicate that the Huntington gene is a genetic marker for this disease. This family suffers from a novel neurodegenerative inherited disease, the gene of whom is probably localized on chromosome 4

Spectrum of inherited myotonias and periodic paralyses

To study the spectrum of inherited myotonias and periodic paralyses in Saudi Arabia. Forty nine patients with electromyography confirmed mytonotic disorders and periodic paralysis were seen at King Khalid University Hospital between January 1985 and January 1998. Data was analyzed and available patients reassessed in order to document fully the various clinical features and ascertain the diagnosis and mode of inheritance. There are 11 patients with Thomsen's disease; 21 patients with Becker's disease, most of them had an early onset of 2-3 years; 12 patients with myotonic dystrophy; and 5 Filipino patients with periodic paralyses, 3 of them with associated thyrotoxicosis. The spectrum of these disorders is similar to that described in western reports, apart from 2 main differences. First, is the clear predominance of Beckeri's disease [45%] which has a lower age of onset. This is probably the result of the high local consanguinity rate. Secondly is the absence of periodic paralysis in Saudis, while some patient had associated thyrotoxicosis, which is well recognized in Far East populations. These disorders are poorly studied in Saudi Arabia deserve further epidemiological and genetic assessment

Spectrum of inherited myotonias and periodic paralyses

To study the spectrum of inherited myotonias and periodic paralyses in Saudi Arabia. Forty nine patients with electromyography confirmed myotonic disorders and periodic paralysis were seen at King Khalid University Hospital between January 1985 and January 1998. Data was analyzed and available patients reassessed in order to document fully the various clinical features and ascertain the diagnosis and mode of inheritance. There are 11 patients with Thomsen's disease; 21 patients with Becker's disease, most of them had an early onset of 2-3 years; 12 patients with myotonic dystrophy; and 5 Filipino patients with periodic paralyses, 3 of them with associated thyrotoxicosis. The spectrum of these disorders is similar to that described in western reports, apart from 2 main differences. First, is the clear predominance of Becker's disease [45%] which has a lower age of onset. This is probably the result of the high local consanguinity rate. Secondly is the absence of periodic paralysis in Saudis, while some patients had associated thyrotoxicosis, which is well recognized in Far East populations. These disorders are poorly studied in Saudi Arabia and deserve further epidemiological and genetic assessment