Autosomal recessive limb-girdle muscular dystrophy type 2H

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, HUTTERITE TYPE
LGMD2H
Limb-girdle muscular dystrophy due to TRIM32 deficiency
sarcotubular myopathy
Number of Symptoms 36
OrphanetNr: 1878
OMIM Id: 254110
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of TRIM32
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003722) Neck flexor weakness 13 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0002515) Waddling gait 56 / 7739
6
 (HPO:0001284) Areflexia 198 / 7739
7
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
8
 (HPO:0003707) Calf muscle pseudohypertrophy 8 / 7739
9
 (HPO:0003691) Scapular winging 51 / 7739
10
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
11
 (HPO:0000098) Tall stature Frequent [Orphanet] 74 / 7739
12
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
13
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
14
 (HPO:0008988) Pelvic girdle muscle atrophy 5 / 7739
15
 (HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
16
 (HPO:0003731) Quadriceps muscle weakness 2 / 7739
17
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
18
 (HPO:0003391) Gowers sign 37 / 7739
19
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
20
 (HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
21
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
22
 (HPO:0003560) Muscular dystrophy 88 / 7739
23
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
24
 (HPO:0003738) Exercise-induced myalgia 19 / 7739
25
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
26
 (OMIM) Vacuole membranes show ATPase reactivity consistent with origin from the sarcoplasmic reticulum 1 / 7739
27
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
28
 (OMIM) Muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers 1 / 7739
29
 (OMIM) Atrophic fibers 1 / 7739
30
 (OMIM) Pectoralis muscles may be less involved, leading to inward shrugging posture 1 / 7739
31
 (OMIM) Increased echo intensity in affected muscles 1 / 7739
32
 (HPO:0003812) Phenotypic variability 129 / 7739
33
 (HPO:0003677) Slow progression 134 / 7739
34
 (OMIM) Exercise-induced weakness 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) 'Flat smile' 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jerusalem et al. (1973) reported 2 brothers from an inbred Hutterite colony with a disorder they termed 'sarcotubular myopathy.' Nonprogressive muscular weakness was present from infancy. Muscle biopsy showed selective involvement of type II fibers with changes that ...
Molecular genetics OMIM In Hutterite patients with LGMD2H, Frosk et al. (2002) identified a homozygous asp487-to-asn mutation in the TRIM32 gene (D487N; 602290.0001).

Schoser et al. (2005) identified the homozygous D487N mutation in the TRIM32 gene in the patients ...
Population genetics OMIM The Hutterites are divided into several main groups (tribes or demes) (Hostetler, 1985). The cases reported by Shokeir and Kobrinsky (1976) were from the Schmiedeleut Hutterites of Manitoba Province in Canada. Shokeir and Rozdilsky (1985) described the same ...