SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: NEURONOPATHY, SEVERE INFANTILE AXONAL, WITH RESPIRATORY FAILURE
SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE
HMN VI
SMARD1
SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI
SIANRF
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
HMN6
DHMN6
DSMA1
Number of Symptoms 31
OrphanetNr:
OMIM Id: 604320
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000020) Urinary incontinence 75 / 7739
2
 (HPO:0001265) Hyporeflexia 208 / 7739
3
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
4
 (HPO:0001762) Talipes equinovarus 309 / 7739
5
 (HPO:0100490) Camptodactyly of finger 212 / 7739
6
 (HPO:0001760) Abnormality of the foot 96 / 7739
7
 (HPO:0001558) Decreased fetal movement 74 / 7739
8
 (HPO:0001622) Premature birth 100 / 7739
9
 (HPO:0006597) Diaphragmatic paralysis 16 / 7739
10
 (HPO:0009109) Denervation of the diaphragm 2 / 7739
11
 (HPO:0002019) Constipation 194 / 7739
12
 (HPO:0009113) Diaphragmatic weakness 12 / 7739
13
 (HPO:0001518) Small for gestational age 107 / 7739
14
 (HPO:0001508) Failure to thrive 454 / 7739
15
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
16
 (HPO:0000975) Hyperhidrosis 64 / 7739
17
 (HPO:0001612) Weak cry 17 / 7739
18
 (HPO:0002789) Tachypnea 48 / 7739
19
 (HPO:0002093) Respiratory insufficiency 410 / 7739
20
 (HPO:0005348) Inspiratory stridor 8 / 7739
21
 (OMIM) Thin diaphragm 1 / 7739
22
 (OMIM) Upper limb weakness and atrophy occurs later 1 / 7739
23
 (OMIM) Small myelinated fibers 1 / 7739
24
 (OMIM) EMG shows neurogenic changes 5 / 7739
25
 (OMIM) Slow motor nerve conduction velocities 2 / 7739
26
 (OMIM) Decreased pain perception (sensory involvement) 1 / 7739
27
 (OMIM) Nerve biopsy shows axonal degeneration 1 / 7739
28
 (OMIM) Membranous diaphragm 1 / 7739
29
 (OMIM) Eventration of the right or both hemidiaphragms 1 / 7739
30
 (OMIM) Ventilar dependence with inability to wean 1 / 7739
31
 (OMIM) Distal muscle weakness and atrophy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mellins et al. (1974) and Bertini et al. (1989) delineated diaphragmatic spinal muscular atrophy (SMA) as a variant of infantile SMA (SMA1; 253300). The most prominent symptoms are severe respiratory distress resulting from diaphragmatic paralysis with eventration shown ...
Molecular genetics OMIM Grohmann et al. (2001) demonstrated that SMARD type 1 results from mutations in the gene encoding immunoglobulin mu-binding protein 2 (IGHMBP2; 600502.0001). In 6 SMARD1 families, Grohmann et al. (2001) detected 3 recessive missense mutations, 2 nonsense mutations, ...