Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs.
AUTOR(ES)
MacDermot, K D
RESUMO
A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1032462Documentos Relacionados
- Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
- Autosomal recessive forms of hereditary motor and sensory neuropathy.
- Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V).
- Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.
- Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.