Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant

Preferred Label : Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant;

Symbol : SMALED1;

CISMeF acronym : SMA-LED; SMALED1; SMALED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinal muscular atrophy, juvenile, proximal, autosomal dominant; Spinal muscular atrophy, childhood, proximal, autosomal dominant; SMALED; Kugelberg-welander syndrome, autosomal dominant;

Description : 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., 2010). The most common form of SMA (see, e.g., SMA1, 253300) shows autosomal recessive inheritance and is due to mutation in the SMN1 gene (600354) on chromosome 5q. - Genetic Heterogeneity of Lower Extremity-Predominant Spinal Muscular Atrophy See also SMALED2 (615290), caused by mutation in the BICD2 gene (609797) on chromosome 9q22.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (DYNC1H1, 600112.0001).;

Prefixed ID : #158600;

Details

Origin ID

158600;

UMLS CUI

C5780022;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH concept]
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- spinal muscular atrophy with lower extremity predominance 1 [DO Concept]
Genes related to phenotype
- Dynein, cytoplasmic 1, heavy chain 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Decreased patellar reflex [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty running [HPO term]
- EMG: neuropathic changes [HPO term]
- Global developmental delay [HPO term]
- Muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy [HPO term]
- Proximal lower limb amyotrophy [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Slowly progressive [HPO term]
- Somatic sensory dysfunction [HPO term]
- Spinal muscular atrophy [HPO term]
- Tongue fasciculation/fibrillation [HPO term]
- Type 2 muscle fiber predominance [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1 [NCIt concept]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) [SNOMED CT concept]
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH Supplementary Concept]
- spinal muscular atrophy, childhood, proximal, autosomal dominant [MeSH concept]

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