271322

SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM


Clinical Synopsis
 

Neuro
- Spinocerebellar degeneration
- Abnormal gait
Eyes
- Slow eye movements
- Progressive intellectual impairment
- Extrapyramidal dysfunction
- Peripheral neuropathy
Skel
- Skeletal abnormalities
Lab
- Nonspecific mitochondrial abnormalities on muscle biopsy
Inheritance
- Autosomal recessive

TEXT

Clinical Features

Al-Din et al. (1990) described an Arab family of Palestinian origin in Kuwait with an autosomal recessive form of spinocerebellar degeneration with slow eye movements. Previously reported cases were either sporadic or of autosomal dominant inheritance (see Wadia-Swami syndrome, 183090). Associated features included progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy showed nonspecific mitochondrial abnormalities. The pedigree showed 3 affected males and 3 affected females in 2 sibships, both with consanguineous parents and at least one common ancestral couple. The progress of the disorder was slower than that in the Wadia-Swami syndrome; a severe disability was reached in 10 to 15 years, but even at that stage the main disability was that of gait and patients managed to live with minimal help except for walking.


Inheritance

The transmission pattern of spinocerebellar degeneration with slow eye movements in the family reported by Al-Din et al. (1990) was consistent with autosomal recessive inheritance.


REFERENCES

  1. Al-Din, A. S. N., Al-Kurdi, A., Al-Salem, M. K., Al-Nassar, K. E., Al-Zuhair, A., Rudwan, M. A., Ayish, I., Barghouti, J. A., Khaffaji, S., Hamawi, T. Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances. J. Neurol. Sci. 96: 191-205, 1990. [PubMed: 2376751, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 10/9/1990
carol : 10/21/2014
carol : 4/7/2005
mimadm : 3/12/1994
supermim : 3/17/1992
carol : 10/9/1990

271322

SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS; SDSEM


SNOMEDCT: 715751004;  



TEXT

Clinical Features

Al-Din et al. (1990) described an Arab family of Palestinian origin in Kuwait with an autosomal recessive form of spinocerebellar degeneration with slow eye movements. Previously reported cases were either sporadic or of autosomal dominant inheritance (see Wadia-Swami syndrome, 183090). Associated features included progressive intellectual impairment and extrapyramidal dysfunction as well as peripheral neuropathy and skeletal abnormalities. Muscle biopsy showed nonspecific mitochondrial abnormalities. The pedigree showed 3 affected males and 3 affected females in 2 sibships, both with consanguineous parents and at least one common ancestral couple. The progress of the disorder was slower than that in the Wadia-Swami syndrome; a severe disability was reached in 10 to 15 years, but even at that stage the main disability was that of gait and patients managed to live with minimal help except for walking.


Inheritance

The transmission pattern of spinocerebellar degeneration with slow eye movements in the family reported by Al-Din et al. (1990) was consistent with autosomal recessive inheritance.


REFERENCES

  1. Al-Din, A. S. N., Al-Kurdi, A., Al-Salem, M. K., Al-Nassar, K. E., Al-Zuhair, A., Rudwan, M. A., Ayish, I., Barghouti, J. A., Khaffaji, S., Hamawi, T. Autosomal recessive ataxia, slow eye movements, dementia and extrapyramidal disturbances. J. Neurol. Sci. 96: 191-205, 1990. [PubMed: 2376751] [Full Text: https://doi.org/10.1016/0022-510x(90)90132-7]


Creation Date:
Victor A. McKusick : 10/9/1990

Edit History:
carol : 10/21/2014
carol : 4/7/2005
mimadm : 3/12/1994
supermim : 3/17/1992
carol : 10/9/1990