Autosomal recessive limb-girdle muscular dystrophy type 2B
General Information (adopted from Orphanet):
Synonyms, Signs: |
LGMD3 LGMD2B Muscular dystrophy, limb-girdle, type 3 Limb-girdle muscular dystrophy due to dysferlin deficiency |
Number of Symptoms | 28 |
OrphanetNr: | 268 |
OMIM Id: |
253601
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ICD-10: |
G71.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | < 0.9 of 100 000 |
Inheritance: |
Autosomal recessive 24843229 [IBIS] |
Age of onset: |
Adolescent Adult 23243261 [IBIS] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autosomal recessive limb-girdle muscular dystrophy
-Rare genetic disease -Rare neurologic disease Qualitative or quantitative defects of dysferlin -Rare genetic disease |
Comment:
The levels of serum creatine kinase are reported to be higher in LGMD2B than in LGMD2A, indicating a more aggressive and active process of muscle wasting. The bi-articular muscles (gastrocnemius, semintendinosus, semimembranosus) involvement that occurs in LGMD2B could be explained by the fact that these muscle groups undergo shortening and lengthening cycles during exercise that causes active muscle regeneration–degeneration, but the failure of muscle repair due to dysferlin deficiency causes the failure to patch the membrane. The clinical progression appears to evolve more rapidly and homogenously in LGMD2B than in LGMD2A (PMID:20092694). |
Symptom Information:
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(HPO:0003713) | Muscle fiber necrosis | 20092694 | IBIS | 8 / 7739 | ||
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(HPO:0003546) | Exercise intolerance | 20092694 | IBIS | 62 / 7739 | ||
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(HPO:0003560) | Muscular dystrophy | 23243261 | IBIS | 88 / 7739 | ||
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(HPO:0012664) | Reduced ejection fraction | 17828519 | IBIS | 32 / 7739 | ||
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(HPO:0001644) | Dilated cardiomyopathy | 17828519 | IBIS | 141 / 7739 | ||
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(HPO:0002792) | Reduced vital capacity | 23243261 | IBIS | 17 / 7739 | ||
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(HPO:0011675) | Arrhythmia | Occasional [IBIS] | 14% (n=22) | 17994539 | IBIS | 226 / 7739 |
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(HPO:0001712) | Left ventricular hypertrophy | Occasional [IBIS] | 18% (n=22) | 17994539 | IBIS | 76 / 7739 |
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(HPO:0003236) | Elevated serum creatine phosphokinase | 20092694 | IBIS | 214 / 7739 | ||
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(HPO:0003557) | Increased variability in muscle fiber diameter | 15201514 | IBIS | 24 / 7739 | ||
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(HPO:0100295) | Muscle fiber atrophy | 24395438 | IBIS | 22 / 7739 | ||
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(HPO:0003555) | Muscle fiber splitting | 20092694 | IBIS | 11 / 7739 | ||
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(HPO:0008981) | Calf muscle hypertrophy | Rare [IBIS] | 7.5% (n=40) | 23243261 | IBIS | 28 / 7739 |
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(HPO:0003458) | EMG: myopathic abnormalities | 24370491 | IBIS | 38 / 7739 | ||
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(HPO:0003551) | Difficulty climbing stairs | 23243261 | IBIS | 23 / 7739 | ||
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(HPO:0009046) | Difficulty running | 23243261 | IBIS | 17 / 7739 | ||
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(HPO:0002072) | Chorea | Rare [IBIS] | 2.5% (n=40) | 23243261 | IBIS | 53 / 7739 |
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(HPO:0003690) | Limb muscle weakness | 23243261 | IBIS | 41 / 7739 | ||
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(HPO:0007340) | Lower limb muscle weakness | 23243261 | IBIS | 61 / 7739 | ||
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(HPO:0003484) | Upper limb muscle weakness | 23243261 | IBIS | 19 / 7739 | ||
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(HPO:0003701) | Proximal muscle weakness | 23243261 | IBIS | 105 / 7739 | ||
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(HPO:0008948) | Proximal upper limb amyotrophy | 23243261 | IBIS | 3 / 7739 | ||
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(HPO:0003691) | Scapular winging | Rare [IBIS] | 2.5% (n=40) | 23243261 | IBIS | 51 / 7739 |
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(HPO:0003307) | Hyperlordosis | Rare [IBIS] | 5% (n=40) | 23243261 | IBIS | 122 / 7739 |
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(HPO:0003306) | Spinal rigidity | Rare [IBIS] | 2.5% (n=40) | 23243261 | IBIS | 30 / 7739 |
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(HPO:0100515) | Pollakisuria | Rare [IBIS] | 2.5% (n=40) | 23243261 | IBIS | 12 / 7739 |
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(HPO:0009025) | Increased connective tissue | 22057634 | IBIS | 11 / 7739 | ||
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(HPO:0003677) | Slow progression | 15201514 | IBIS | 134 / 7739 |
Associated genes:
DYSF; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Diagnosis OMIM |
Cacciottolo et al. (2011) found that all of 55 patients with an undetermined LGMD clinical phenotype and 10 patients with a Miyoshi myopathy phenotype who had less than 20% dysferlin on skeletal muscle biopsy determined by Western blot ... |
Clinical Description OMIM |
Bashir et al. (1994) reported 2 unrelated consanguineous families, 1 of Palestinian and 1 of Sicilian origin, with autosomal recessive LGMD. Age at onset ranged from 15 to 25 years with difficulty in climbing stairs, fatigue, weakness, and ... |
Molecular genetics OMIM |
In affected members of 8 Libyan Jewish families with LGMD2B, Bashir et al. (1998) identified a homozygous mutation in the DYSF gene (603009.0005). In a ninth Libyan Jewish family, with a single affected member, the mutation was detected ... |
Population genetics OMIM |
Guglieri et al. (2008) found that LGMD2B was the second most common form of LGMD after LGMD2A among 155 Italian probands. LGMD2B occurred in 18.7% of probands, whereas LGMD2A occurred in 28.4%. In LGMD2B, there was a correlation ... |