Autosomal recessive lower motor neuron disease with childhood onset

General Information (adopted from Orphanet):

Synonyms, Signs: Autosomal recessive distal spinal muscular atrophy type 4
Distal spinal muscular atrophy type 4
dsma4
Number of Symptoms 28
OrphanetNr: 206580
OMIM Id: 611067
ICD-10: G12.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Generalized bulbospinal muscular atrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002366) Abnormal lower motor neuron morphology 12 / 7739
2
 (HPO:0002515) Waddling gait 56 / 7739
3
 (HPO:0002355) Difficulty walking 61 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0001762) Talipes equinovarus 309 / 7739
6
 (HPO:0009473) Joint contracture of the hand 84 / 7739
7
 (HPO:0002650) Scoliosis 705 / 7739
8
 (HPO:0003307) Hyperlordosis 122 / 7739
9
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
10
 (HPO:0003551) Difficulty climbing stairs 23 / 7739
11
 (HPO:0003693) Distal amyotrophy 118 / 7739
12
 (HPO:0002460) Distal muscle weakness 122 / 7739
13
 (HPO:0003697) Scapuloperoneal amyotrophy 5 / 7739
14
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
15
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
16
 (HPO:0003701) Proximal muscle weakness 105 / 7739
17
 (OMIM) Normal sensation 2 / 7739
18
 (OMIM) Contractures, hand and finger muscles 1 / 7739
19
 (HPO:0003678) Rapidly progressive 33 / 7739
20
 (OMIM) Scapuloperoneal muscular atrophy due to denervation 1 / 7739
21
 (OMIM) EMG shows neurogenic changes and denervation 1 / 7739
22
 (OMIM) Distal muscle atrophy due to denervation 1 / 7739
23
 (OMIM) Sural nerve biopsy shows normal findings 1 / 7739
24
 (OMIM) Distal muscle weakness and atrophy due to motor neuronopathy 1 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Normal mental development 2 / 7739
27
 (OMIM) Difficulty walking and climbing stairs 2 / 7739
28
 (HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Maystadt et al. (2006) reported a large consanguineous family from Mali in which 5 sibs, including a pair of monozygotic twins, had early onset of severe distal spinal muscular atrophy. Four of the sibs had onset of difficulty ...
Molecular genetics OMIM In the large inbred Malian family reported by Maystadt et al. (2006), Maystadt et al. (2007) identified a homozygous missense mutation in the PLEKHG5 gene (611101.0001).