Lower motor neuron syndrome with late-adult onset

General Information (adopted from Orphanet):

Synonyms, Signs: SMAJ
Number of Symptoms 21
OrphanetNr: 276435
OMIM Id: 615048
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: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
3
(HPO:0002380) Fasciculations 42 / 7739
4
(HPO:0001284) Areflexia 198 / 7739
5
(HPO:0002355) Difficulty walking 61 / 7739
6
(HPO:0001763) Pes planus 176 / 7739
7
(HPO:0008981) Calf muscle hypertrophy rare [HPO:skoehler] 28 / 7739
8
(HPO:0001765) Hammertoe 63 / 7739
9
(HPO:0001761) Pes cavus 225 / 7739
10
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
(HPO:0007269) Spinal muscular atrophy 24 / 7739
12
(OMIM) Signs of denervation seen on biopsy 1 / 7739
13
(HPO:0003677) Slow progression 134 / 7739
14
(OMIM) Muscle atrophy, mild 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Painful muscle cramps 2 / 7739
17
(OMIM) Muscle weakness, proximal and distal, affecting upper and lower limbs 1 / 7739
18
(OMIM) Lower motor neuron disease affecting upper and lower limbs 1 / 7739
19
(OMIM) Secondary myopathic changes 1 / 7739
20
(OMIM) Neurogenic changes seen on EMG 1 / 7739
21
(OMIM) Distal sensory impairment, mild (in some patients) 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Jokela et al. (2011) reported 2 large unrelated Finnish families with late adult-onset spinal muscular atrophy. Twelve individuals were examined. Affected individuals developed painful muscle cramps associated with slowly progressive weakness and atrophy of the proximal and distal ...