Assuntos
Distúrbios do Sono por Sonolência Excessiva/psicologia , Fome , Transtornos da Personalidade/psicologia , Adolescente , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/terapia , Humanos , Masculino , Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/terapia , SíndromeRESUMO
One hundred four cases of Charcot-Marie-Tooth disease (CMT) in 52 families were identified within a defined area in northern Sweden corresponding to a prevalence rate of 20.1 cases per 100,000 (Dec 31 1991) for all subtypes. The prevalence of CMT type I was 16.2 per 100,000. The distribution of cases was not uniform. The prevalence rate is compared with previous prevalence studies focusing on Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy (HMSN). Three patients were classified as the distal spinal muscular atrophy type of CMT and one patient was not possible to classify. For seventy-five patients, available to clinical examination within the study, data were collected as to age at onset, symptoms, clinical findings and degree of disability.
Assuntos
Doença de Charcot-Marie-Tooth/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doença de Charcot-Marie-Tooth/classificação , Doença de Charcot-Marie-Tooth/genética , Criança , Pré-Escolar , Aberrações Cromossômicas/genética , Transtornos Cromossômicos , Estudos Transversais , Avaliação da Deficiência , Feminino , Genes Recessivos , Ligação Genética , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Linhagem , Aberrações dos Cromossomos Sexuais/genética , Suécia/epidemiologia , Cromossomo XRESUMO
A family is reported in which there is one case of adrenomyeloneuropathy, one case of Addison's disease and at least three heterozygous females with spastic paraparesis and peripheral neuropathy. Adrenomyeloneuropathy has not been reported previously in Scandinavia. The differences in the clinical picture between the sexes and at different ages are emphasized. Elevation of the levels of very-long-chain fatty acids in plasma is a characteristic feature of the disease and confirms the diagnosis. Some recent reports in the literature seem to provide some hope that the clinical manifestations of adrenomyeloneuropathy/adrenoleukodystrophy may be prevented.
Assuntos
Insuficiência Adrenal/genética , Doenças do Sistema Nervoso Periférico/genética , Adolescente , Insuficiência Adrenal/sangue , Insuficiência Adrenal/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Ácidos Graxos/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paralisia/genética , Linhagem , Doenças do Sistema Nervoso Periférico/sangue , Doenças do Sistema Nervoso Periférico/etiologiaRESUMO
X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis one woman was detected to be a heterozygous gene carrier. However, in a group of eleven adult men with idiopathic Addison's disease the plasma concentrations of very long-chain fatty acids were all within normal limits. We conclude that X-linked adrenoleukodystrophy and symptomatic heterozygous females should be considered in cases of progressive spastic paraparesis.
Assuntos
Doença de Addison/genética , Ligação Genética/genética , Testes Genéticos , Aberrações dos Cromossomos Sexuais/genética , Paraplegia Espástica Hereditária/genética , Cromossomo X , Doença de Addison/prevenção & controle , Adulto , Ácidos Graxos/sangue , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Fatores de Risco , Aberrações dos Cromossomos Sexuais/prevenção & controle , Paraplegia Espástica Hereditária/prevenção & controleRESUMO
Sixty-seven patients in 29 families with the diagnosis of Charcot-Marie-Tooth disease or hereditary motor and sensory neuropathy in northern Sweden were examined by pedigree and DNA analysis for the CMT1a duplication within chromosome 17p11.2. There were 39 patients in nine families with Charcot-Marie-Tooth type 1 and autosomal dominant inheritance and in all these cases the duplication was seen. In six patients in three families with Charcot-Marie-Tooth type 1 the pedigrees strongly suggested autosomal recessive inheritance. In two patients DNA analysis was not informative but in the others no duplication was shown. There were also 11 "sporadic" patients and one pair of sibs classified as Charcot-Marie-Tooth type 1, but there was no duplication shown although in four patients DNA analysis was not informative. In nine patients with Charcot-Marie-Tooth type 2 from five families and in 13 unaffected relatives of Charcot-Marie-Tooth patients the CMT1a duplication was not found.