ICD+

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1


INHERITANCE
- Autosomal dominant
- Autosomal recessive

MUSCLE, SOFT TISSUES
- Muscle weakness and atrophy
- Fasciculations
- Muscle cramps

NEUROLOGIC
Central Nervous System
- Spasticity
- Hyperreflexia
- Ocular motility spared
- Upper and lower neuron manifestations
- Bulbar dysfunction (e.g. dysarthria and dysphagia)
- Sleep apnea
- Pseudobulbar palsy (e.g. involuntary weeping or laughter)
- Pathologic changes in anterior horn cells and lateral corticospinal tracts

LABORATORY ABNORMALITIES
- Reduced cytosolic superoxide dismutase-1 (SOD1)

MISCELLANEOUS
- Approximately 10% of ALS cases are familial
- Genetic heterogeneity

MOLECULAR BASIS
- Caused by mutation in the superoxide dismutase-1 gene (SOD-1, 147450.0001) Susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (NEFH, 162230.0001)
- Susceptibility conferred by mutation in the peripherin gene (PRPH, 170710.0001)
- Susceptibility conferred by mutation in the dynactin 1 gene (DCTN1, 601143.0002)


Contributors:
Joanna S. Amberger - updated : 5/2/2006
Ada Hamosh - reviewed : 4/14/2000
Kelly A. Przylepa - revised : 2/21/2000
Creation Date:
John F. Jackson : 6/15/1995
Edit History:
joanna : 08/13/2015
joanna : 7/2/2013
joanna : 7/2/2013
joanna : 10/5/2012
joanna : 5/2/2006
joanna : 5/2/2006
joanna : 1/30/2002
joanna : 8/9/2001
joanna : 4/14/2000
kayiaros : 2/21/2000

# 105400

AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1


ORPHA: 803;   DO: 0060193;  


INHERITANCE
- Autosomal dominant
- Autosomal recessive

MUSCLE, SOFT TISSUES
- Muscle weakness and atrophy
- Fasciculations
- Muscle cramps

NEUROLOGIC
Central Nervous System
- Spasticity
- Hyperreflexia
- Ocular motility spared
- Upper and lower neuron manifestations
- Bulbar dysfunction (e.g. dysarthria and dysphagia)
- Sleep apnea
- Pseudobulbar palsy (e.g. involuntary weeping or laughter)
- Pathologic changes in anterior horn cells and lateral corticospinal tracts

LABORATORY ABNORMALITIES
- Reduced cytosolic superoxide dismutase-1 (SOD1)

MISCELLANEOUS
- Approximately 10% of ALS cases are familial
- Genetic heterogeneity

MOLECULAR BASIS
- Caused by mutation in the superoxide dismutase-1 gene (SOD-1, 147450.0001) Susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (NEFH, 162230.0001)
- Susceptibility conferred by mutation in the peripherin gene (PRPH, 170710.0001)
- Susceptibility conferred by mutation in the dynactin 1 gene (DCTN1, 601143.0002)


Contributors:
Joanna S. Amberger - updated : 5/2/2006
Ada Hamosh - reviewed : 4/14/2000
Kelly A. Przylepa - revised : 2/21/2000

Creation Date:
John F. Jackson : 6/15/1995

Edit History:
joanna : 08/13/2015
joanna : 7/2/2013
joanna : 7/2/2013
joanna : 10/5/2012
joanna : 5/2/2006
joanna : 5/2/2006
joanna : 1/30/2002
joanna : 8/9/2001
joanna : 4/14/2000
kayiaros : 2/21/2000