Infantile-onset ascending hereditary spastic paralysis

General Information (adopted from Orphanet):

Synonyms, Signs: IAHSP
Number of Symptoms 43
OrphanetNr: 293168
OMIM Id: 607225
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000020) Urinary incontinence 75 / 7739
2
(HPO:0000271) Abnormality of the face 108 / 7739
3
(HPO:0000478) Abnormality of the eye 126 / 7739
4
(HPO:0000496) Abnormality of eye movement Frequent [Orphanet] 79 / 7739
5
(HPO:0001258) Spastic paraplegia 97 / 7739
6
(HPO:0005216) Chewing difficulties 6 / 7739
7
(HPO:0002510) Spastic tetraplegia 54 / 7739
8
(HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
9
(HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
10
(HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
11
(HPO:0007256) Abnormal pyramidal signs Very frequent [Orphanet] 116 / 7739
12
(HPO:0002425) Anarthria 5 / 7739
13
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
14
(HPO:0001260) Dysarthria 329 / 7739
15
(HPO:0002445) Tetraplegia 26 / 7739
16
(HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
17
(HPO:0001270) Motor delay 322 / 7739
18
(HPO:0003487) Babinski sign 179 / 7739
19
(HPO:0000712) Emotional lability Frequent [Orphanet] 44 / 7739
20
(HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
21
(HPO:0001761) Pes cavus 225 / 7739
22
(HPO:0001771) Achilles tendon contracture 27 / 7739
23
(HPO:0002650) Scoliosis 705 / 7739
24
(HPO:0001324) Muscle weakness 859 / 7739
25
(HPO:0003676) Progressive disorder 148 / 7739
26
(OMIM) No lower motor neuron signs or involvement 1 / 7739
27
(OMIM) Ocular gaze palsies (onset in second decade) 1 / 7739
28
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
(OMIM) Normal cognition and intellectual function 1 / 7739
30
(HPO:0003593) Infantile onset 249 / 7739
31
(OMIM) Early involvement of the corticospinal pathways 1 / 7739
32
(OMIM) Stiffness of the lower limbs 1 / 7739
33
(OMIM) Normal EMG 2 / 7739
34
(MedDRA:10004804) Biopsy muscle normal 3 / 7739
35
(OMIM) Upper limb involvement 4 / 7739
36
(MedDRA:10021639) Incontinence 11 / 7739
37
(OMIM) Decreased or absent motor evoked potentials (MEP), indicating dysfunction of the corticospinal tracts 1 / 7739
38
(HPO:0002492) Abnormality of the corticospinal tract 2 / 7739
39
(HPO:0003677) Slow progression 134 / 7739
40
(OMIM) MRI shows T2-weighted hyperintensities in the corticospinal tracts and posterior arms of the internal capsule in older patients 1 / 7739
41
(OMIM) Weakness of the facial muscles 2 / 7739
42
(OMIM) MRI shows atrophy of the motor cortex in older patients 1 / 7739
43
(OMIM) Slow eye movements 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Eymard-Pierre et al. (2002) studied 15 patients from 10 families who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper ...
Molecular genetics OMIM Eymard-Pierre et al. (2002) performed mutation analysis on 15 patients with IAHSP from 10 unrelated families of different ethnic origins. They demonstrated truncation mutations in the ALS2 gene in 4 of the 10 families (606352.0005-606352.0008). Mutations in regulatory ...