Spinal muscular atrophy, jokela type

Preferred Label : Spinal muscular atrophy, jokela type;

Symbol : SMAJ;

CISMeF acronym : SMAJ;

Type : Phenotype, molecular basis known;

Description : The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (CHCHD10, 615903.0003);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615048;

Détails

Origin ID

615048;

UMLS CUI

C3554398;

Genes related to phenotype
- Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Difficulty walking [HPO term]
- Distal sensory impairment [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fasciculations [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spinal muscular atrophy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Lower motor neuron syndrome with late-adult onset [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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