Amyotrophic lateral sclerosis type 4

General Information (adopted from Orphanet):

Synonyms, Signs: NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
ALS4
dHMN with upper motor neuron signs
Distal hereditary motor neuropathy with upper motor neuron signs
Number of Symptoms 23
OrphanetNr: 357043
OMIM Id: 602433
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic motor neuron disease
 -Rare genetic disease
 -Rare neurologic disease
Genetic neurodegenerative disease
 -Rare genetic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002355) Difficulty walking 61 / 7739
2
 (HPO:0003487) Babinski sign 179 / 7739
3
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
6
 (HPO:0003405) Diffuse axonal swelling 1 / 7739
7
 (HPO:0002127) Abnormal upper motor neuron morphology 15 / 7739
8
 (HPO:0002169) Clonus Occasional [HPO:probinson] 37 / 7739
9
 (HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
10
 (HPO:0001761) Pes cavus 225 / 7739
11
 (HPO:0002460) Distal muscle weakness 122 / 7739
12
 (OMIM) Clonus may occur 1 / 7739
13
 (OMIM) No sensory abnormalities 5 / 7739
14
 (OMIM) Proximal weakness occurs later 1 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Axonal degeneration 7 / 7739
17
 (HPO:0040078) Axonal degeneration 10 / 7739
18
 (HPO:0006825) Pallor of dorsal columns of the spinal cord 1 / 7739
19
 (HPO:0003677) Slow progression 134 / 7739
20
 (OMIM) Atrophy of distal muscles 1 / 7739
21
 (OMIM) Pes cavus has been reported 1 / 7739
22
 (OMIM) No bulbar involvement 1 / 7739
23
 (OMIM) Corticospinal tracts with decreased myelin staining 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Childhood- and adolescent-onset forms of familial ALS (see ALS1, 105400) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (205100) and ALS5 (602099).
Clinical Description OMIM Chance et al. (1998) studied an 11-generation pedigree with a slowly progressive, autosomal dominant form of juvenile ALS, defined as a chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with onset ...
Molecular genetics OMIM To identify the molecular basis of ALS4, Chen et al. (2004) tested 19 genes within the critical region for ALS4 identified by linkage studies and detected 3 different missense mutations in the senataxin gene (SETX; 608465).