Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

General Information (adopted from Orphanet):

Synonyms, Signs: SMALED1
SPINAL MUSCULAR ATROPHY, JUVENILE, PROXIMAL, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT
SMA-LED
KUGELBERG-WELANDER SYNDROME, AUTOSOMAL DOMINANT
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures
Number of Symptoms 27
OrphanetNr: 209341
OMIM Id: 158600
ICD-10: G12.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant childhood-onset proximal spinal muscular atrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002515) Waddling gait 56 / 7739
2
 (HPO:0003474) Sensory impairment 54 / 7739
3
 (HPO:0011808) Decreased patellar reflex 1 / 7739
4
 (HPO:0001761) Pes cavus 225 / 7739
5
 (HPO:0001763) Pes planus 176 / 7739
6
 (HPO:0001838) Rocker bottom foot 85 / 7739
7
 (HPO:0008956) Proximal lower limb amyotrophy 5 / 7739
8
 (HPO:0001822) Hallux valgus 70 / 7739
9
 (HPO:0001760) Abnormality of the foot 96 / 7739
10
 (HPO:0001765) Hammertoe 63 / 7739
11
 (HPO:0003445) EMG: neuropathic changes 21 / 7739
12
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
13
 (HPO:0009046) Difficulty running 17 / 7739
14
 (HPO:0010602) Type 2 muscle fiber predominance 1 / 7739
15
 (HPO:0008994) Proximal muscle weakness in lower limbs 11 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
 (OMIM) Difficulty running and climbing stairs 1 / 7739
18
 (OMIM) Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy 5 / 7739
19
 (OMIM) EMG shows chronic denervation 3 / 7739
20
 (HPO:0011463) Childhood onset 65 / 7739
21
 (OMIM) Muscle weakness, symmetric, proximal, lower limbs 1 / 7739
22
 (OMIM) No sensory impairment 1 / 7739
23
 (OMIM) Hip abductor weakness and atrophy 1 / 7739
24
 (HPO:0003677) Slow progression 134 / 7739
25
 (OMIM) Cognitive delay, mild (1 patient) 1 / 7739
26
 (OMIM) Lower limb muscle atrophy 4 / 7739
27
 (OMIM) Delayed walking 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. SMALED shows autosomal dominant inheritance with muscle weakness predominantly affecting the proximal lower extremities (Harms et al., ...
Clinical Description OMIM Timme (1917) described a family with a dominant form of proximal 'muscular dystrophy' with onset at age 3 or 4 years, but with little if any effect on longevity and useful life. Gowers sign was noted early and ...
Molecular genetics OMIM In affected members of a large family with autosomal dominant lower extremity spinal muscular atrophy originally reported by Harms et al. (2010), Harms et al. (2012) identified a heterozygous 1750A-C mutation in the DYNC1H1 gene (I584L; 600112.0004). The ...