Spheroid body myopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 268129
OMIM Id: 182920
ICD-10: G71.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Myofibrillar myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of myotilin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003722) Neck flexor weakness 13 / 7739
2
 (HPO:0002515) Waddling gait 56 / 7739
3
 (HPO:0003438) Absent Achilles reflex 9 / 7739
4
 (HPO:0002136) Broad-based gait 30 / 7739
5
 (HPO:0002015) Dysphagia 301 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
7
 (HPO:0001611) Nasal speech 48 / 7739
8
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
9
 (HPO:0002460) Distal muscle weakness 122 / 7739
10
 (HPO:0003198) Myopathy 151 / 7739
11
 (HPO:0003701) Proximal muscle weakness 105 / 7739
12
 (HPO:0007126) Proximal amyotrophy 29 / 7739
13
 (OMIM) Streaming of the Z-disk seen on electron microscopy 1 / 7739
14
 (OMIM) Muscle pain and cramping on exertion 1 / 7739
15
 (OMIM) EMG shows myopathic features 1 / 7739
16
 (OMIM) Muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers 1 / 7739
17
 (HPO:0003828) Variable expressivity 130 / 7739
18
 (OMIM) Spheroid bodies are composed of fine filamentous (myofibrillar) material 1 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
20
 (OMIM) Tremor, upper limbs 2 / 7739
21
 (OMIM) Muscle fibers contain internal nuclei 1 / 7739
22
 (HPO:0003674) Onset 32 / 7739
23
 (OMIM) Respiratory difficulties due to muscle weakness in some patients 1 / 7739
24
 (HPO:0003677) Slow progression 134 / 7739
25
 (OMIM) Variation in fiber size 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spheroid body myopathy is a form of myofibrillar myopathy (MFM). Myofibrillar myopathy refers to a genetically heterogeneous group of muscular disorders characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the ...
Clinical Description OMIM Goebel et al. (1978) described a family from Indiana in which 15 members spanning 4 generations had a slowly progressive myopathy inherited in an autosomal dominant pattern. The disorder began in adolescence and proceeded to some motor incapacitation, ...
Molecular genetics OMIM In 21 affected members of a large kindred with spheroid body myopathy reported by Goebel et al. (1978, 1997), Foroud et al. (2005) identified a heterozygous mutation in the TTID gene (S39F; 604103.0006). Although patients with spheroid body ...