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Polyglucosan body myopathy type 2(PGBM2)

MedGen UID:
863889
Concept ID:
C4015452
Disease or Syndrome
Synonyms: PGBM2; POLYGLUCOSAN BODY MYOPATHY 2
SNOMED CT: Polyglucosan body myopathy type 2 (1228849007); PGBM2 - polyglucosan body myopathy type 2 (1228849007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GYG1 (3q24)
 
Monarch Initiative: MONDO:0014526
OMIM®: 616199
Orphanet: ORPHA456369

Definition

Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014). For a discussion of genetic heterogeneity of PGBM, see PGBM1 (615895). [from OMIM]

Clinical features

From HPO
Hand muscle weakness
MedGen UID:
66798
Concept ID:
C0239831
Finding
Reduced strength of the musculature of the hand.
Peroneal muscle weakness
MedGen UID:
488803
Concept ID:
C0240733
Finding
Weakness of the peroneal muscles.
Shoulder girdle muscle weakness
MedGen UID:
96533
Concept ID:
C0427063
Finding
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Pelvic girdle muscle weakness
MedGen UID:
96534
Concept ID:
C0427064
Finding
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
Limb-girdle muscle weakness
MedGen UID:
347625
Concept ID:
C1858127
Finding
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
Pelvic girdle amyotrophy
MedGen UID:
867170
Concept ID:
C4021528
Disease or Syndrome
Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.
Muscle fibrillation
MedGen UID:
65418
Concept ID:
C0231531
Finding
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Reduced strength of the musculature of the distal extremities.
Muscle fiber inclusion bodies
MedGen UID:
867769
Concept ID:
C4022159
Finding
Muscle fiber polyglucosan inclusion bodies
MedGen UID:
1841936
Concept ID:
C5826649
Finding
Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Recent clinical studies

Etiology

Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C
Virchows Arch 2019 Dec;475(6):671-686. Epub 2019 Jul 30 doi: 10.1007/s00428-019-02633-6. PMID: 31363843

Diagnosis

Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C
Virchows Arch 2019 Dec;475(6):671-686. Epub 2019 Jul 30 doi: 10.1007/s00428-019-02633-6. PMID: 31363843

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