MIYOSHI MUSCULAR DYSTROPHY 1

General Information (adopted from Orphanet):

Synonyms, Signs: MIYOSHI MYOPATHY
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE
MMD1
Number of Symptoms 21
OrphanetNr:
OMIM Id: 254130
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200101) Decreased/absent ankle reflexes 4 / 7739
2
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
(HPO:0003551) Difficulty climbing stairs 23 / 7739
4
(HPO:0007340) Lower limb muscle weakness 61 / 7739
5
(HPO:0003560) Muscular dystrophy 88 / 7739
6
(OMIM) Sparing of small hand and finger muscles 1 / 7739
7
(OMIM) Sparing of anterior tibialis muscle 1 / 7739
8
(OMIM) Muscle biopsy shows decreased or absent dysferlin staining 1 / 7739
9
(OMIM) Muscle weakness in forearm muscles 1 / 7739
10
(OMIM) Amyloid deposition in muscle fibers occurs rarely 2 / 7739
11
(OMIM) Preserved heel standing 1 / 7739
12
(OMIM) Difficulty rising from a squatting position 1 / 7739
13
(OMIM) Muscle wasting in lower limbs 1 / 7739
14
(OMIM) Hamstring and quadriceps muscles mildly affected 1 / 7739
15
(OMIM) Fibrillations in affected muscles 1 / 7739
16
(OMIM) Muscle biopsy may show inflammatory changes 1 / 7739
17
(OMIM) MRI shows increased signal intensity in affected muscles consistent with fatty infiltration 1 / 7739
18
(OMIM) Mild muscle atrophy in forearm muscles 1 / 7739
19
(OMIM) Difficulty in toe walking 1 / 7739
20
(OMIM) Gastrocnemius and soleus muscles most affected 1 / 7739
21
(MedDRA:10062556) Grip strength decreased 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Miyoshi muscular dystrophy is an autosomal recessive skeletal muscle disorder characterized by onset in young adulthood of distal muscle weakness affecting the upper and lower limbs but sparing the intrinsic hand muscles. Muscle weakness and atrophy particularly affects ...
Clinical Description OMIM Miyoshi et al. (1967) reported 4 patients from 2 Japanese families with distal myopathy inherited in an autosomal recessive pattern. Sasaki et al. (1969) and Ideta et al. (1973) each reported 4 affected patients. Kuhn and Schroder (1981) ...
Molecular genetics OMIM In 9 families with either Miyoshi myopathy or LGMD2B, Liu et al. (1998) identified 9 mutations in the dysferlin gene (see, e.g., 603009.0001), indicating that they are allelic disorders.