Hereditary myoclonus - progressive distal muscular atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: SMAPME
MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
Jankovic-Rivera syndrome
Number of Symptoms 37
OrphanetNr: 2590
OMIM Id: 159950
ICD-10: G25.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Progressive epilepsy and/or ataxia with myoclonus as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001308) Tongue fasciculations 18 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0002197) Generalized seizures 30 / 7739
4
 (HPO:0001284) Areflexia 198 / 7739
5
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
6
 (HPO:0002380) Fasciculations 42 / 7739
7
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
8
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
9
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
10
 (HPO:0001337) Tremor 200 / 7739
11
 (HPO:0002359) Frequent falls 24 / 7739
12
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
13
 (HPO:0000726) Dementia 131 / 7739
14
 (HPO:0002355) Difficulty walking 61 / 7739
15
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
16
 (HPO:0001336) Myoclonus 115 / 7739
17
 (HPO:0002015) Dysphagia 301 / 7739
18
 (HPO:0002650) Scoliosis 705 / 7739
19
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
20
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
21
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
22
 (HPO:0003391) Gowers sign 37 / 7739
23
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
24
 (HPO:0003701) Proximal muscle weakness 105 / 7739
25
 (HPO:0007269) Spinal muscular atrophy 24 / 7739
26
 (HPO:0008955) Progressive distal muscular atrophy 2 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) Normal serum creatine kinase 12 / 7739
29
 (OMIM) EMG shows chronic denervation 3 / 7739
30
 (HPO:0003621) Juvenile onset 105 / 7739
31
 (OMIM) Muscle biopsy showed neurogenic atrophy 3 / 7739
32
 (OMIM) Normal early psychomotor development 1 / 7739
33
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
34
 (OMIM) 3-4 Hz slow sharp waves seen on EEG 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (HPO:0003676) Progressive disorder 148 / 7739
37
 (OMIM) Loss of independent ambulation 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spinal muscular atrophy with progressive myoclonic epilepsy is an autosomal recessive neuromuscular disorder characterized by childhood onset of proximal muscle weakness and generalized muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic ...
Clinical Description OMIM Haliloglu et al. (2002) reported a consanguineous Turkish family in which 3 sibs had childhood-onset spinal muscular atrophy and progressive myoclonic epilepsy. The children presented between ages 2 and 5 years with difficulty walking, frequent falls, and tremor. ...
Molecular genetics OMIM In 5 children from 2 families with spinal muscular atrophy with progressive myoclonic epilepsy, Zhou et al. (2012) identified a homozygous mutation in the ASAH1 gene (T42M; 613468.0006). The mutation was identified by genomewide linkage analysis followed by ...