Autosomal dominant limb-girdle muscular dystrophy type 1H

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD1H
Number of Symptoms 21
OrphanetNr: 238755
OMIM Id: 613530
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0008981) Calf muscle hypertrophy 28 / 7739
3
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
(HPO:0003560) Muscular dystrophy 88 / 7739
5
(HPO:0001324) Muscle weakness 859 / 7739
6
(HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
7
(HPO:0003687) Centrally nucleated skeletal muscle fibers rare [HPO:skoehler] 15 / 7739
8
(HPO:0003200) Ragged-red muscle fibers 37 / 7739
9
(HPO:0009025) Increased connective tissue 11 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
(MedDRA:10051403) Mitochondrial DNA deletion 6 / 7739
12
(HPO:0003677) Slow progression 134 / 7739
13
(OMIM) Cytochrome c oxidase-negative fibers 1 / 7739
14
(OMIM) Subsarcolemmal mitochondrial accumulation 4 / 7739
15
(OMIM) Limb muscle weakness, proximal, upper and lower 2 / 7739
16
(HPO:0003828) Variable expressivity 130 / 7739
17
(OMIM) Muscle biopsy shows abnormal fiber size and variation 1 / 7739
18
(HPO:0003829) Incomplete penetrance 85 / 7739
19
(OMIM) Centralized nuclei, rare 1 / 7739
20
(OMIM) EMG shows myopathic pattern 1 / 7739
21
(OMIM) Hip girdle muscle atrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting both the upper and lower limbs (Bisceglia et al., 2010).

For a phenotypic description and ...

Clinical Description OMIM Bisceglia et al. (2010) reported a 4-generation family from southern Italy segregating limb-girdle muscular dystrophy in an autosomal dominant pattern of inheritance. Five family members presented with slowly progressive muscle weakness, initially affecting the lower limbs and later ...