NONAKA MYOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs: NONAKA DISTAL MYOPATHY
MYOPATHY, DISTAL, WITH RIMMED VACUOLES
NM
DMRV
Number of Symptoms 16
OrphanetNr:
OMIM Id: 605820
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001288) Gait disturbance 318 / 7739
2
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
(HPO:0003805) Rimmed vacuoles 22 / 7739
4
(HPO:0003458) EMG: myopathic abnormalities 38 / 7739
5
(HPO:0003693) Distal amyotrophy 118 / 7739
6
(HPO:0002460) Distal muscle weakness 122 / 7739
7
(HPO:0003791) Deposits immunoreactive to beta-amyloid protein 4 / 7739
8
(OMIM) Quadriceps muscle spared 2 / 7739
9
(OMIM) Congophilic amyloid material 1 / 7739
10
(HPO:0003581) Adult onset 117 / 7739
11
(OMIM) Hamstring muscle affected 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Inflammatory cells absent 2 / 7739
14
(OMIM) Tubulofilamentous nuclear or cytoplasmic inclusions on biopsy 1 / 7739
15
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
16
(OMIM) Tibialis anterior muscle affected 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nonaka et al. (1981) described a form of muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles, and onset in early adulthood. The EMG demonstrated a myopathic pattern and CPK was mildly elevated. Rapid clinical ...
Molecular genetics OMIM Eisenberg et al. (2001) demonstrated mutations in the GNE gene (603824) in autosomal recessive inclusion body myopathy and urged that the GNE gene be studied in Nonaka myopathy. This was done by Kayashima et al. (2002). Sequence and ...