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Limb-girdle muscular dystrophy, type 2E(LGMD2E)

MedGen UID:
347674
Concept ID:
C1858593
Disease or Syndrome
Synonyms: Beta-sarcoglycan limb-girdle muscular dystrophy; LGMD2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: SGCB
Cytogenetic location: 4q12
OMIM®: 604286
Orphanet: ORPHA119

Definition

Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs. The severity, age of onset, and features of limb-girdle muscle dystrophy vary among the many subtypes of this condition and may be inconsistent even within the same family. Signs and symptoms may first appear at any age and generally worsen with time, although in some cases they remain mild. In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. They may need to use their arms to press themselves up from a squatting position because of their weak thigh muscles. As the condition progresses, people with limb-girdle muscular dystrophy may eventually require wheelchair assistance. Muscle wasting may cause changes in posture or in the appearance of the shoulder, back, and arm. In particular, weak shoulder muscles tend to make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. Weakening of the heart muscle (cardiomyopathy) occurs in some forms of limb-girdle muscular dystrophy. Some affected individuals experience mild to severe breathing problems related to the weakness of muscles needed for breathing. Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, developmental delay and intellectual disability have been reported in rare forms of the disorder.
[from GHR]

Clinical features

Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Pelvic girdle muscle atrophy
MedGen UID:
66014
Concept ID:
C0240679
Finding
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Shoulder girdle muscle atrophy
MedGen UID:
339837
Concept ID:
C1847766
Finding
Limb-girdle muscle weakness
MedGen UID:
505515
Concept ID:
CN002999
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.
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Proximal amyotrophy
MedGen UID:
425870
Concept ID:
CN006224
Finding
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Shoulder girdle muscle atrophy
MedGen UID:
339837
Concept ID:
C1847766
Finding
Limb-girdle muscle weakness
MedGen UID:
505515
Concept ID:
CN002999
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.
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGLimb-girdle muscular dystrophy, type 2E

Recent clinical studies

Etiology

Fanin M, Nascimbeni AC, Angelini C
Clin Neuropathol 2014 May-Jun;33(3):179-85. doi: 10.5414/NP300728. PMID: 24618072

Diagnosis

Fanin M, Nascimbeni AC, Angelini C
Neuromuscul Disord 2006 Nov;16(11):792-9. Epub 2006 Aug 23 doi: 10.1016/j.nmd.2006.06.010. [Epub ahead of print] PMID: 16934466
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M
J Mol Neurosci 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71. PMID: 11665864

Therapy

Wong-Kisiel LC, Kuntz NL
Neuromuscul Disord 2010 Feb;20(2):122-4. Epub 2010 Jan 13 doi: 10.1016/j.nmd.2009.11.005. [Epub ahead of print] PMID: 20071171

Prognosis

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A
Hum Mutat 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357. PMID: 16088906
Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM
Hum Mol Genet 1996 Dec;5(12):1953-61. PMID: 8968749

Clinical prediction guides

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A
Hum Mutat 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357. PMID: 16088906
Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M
J Mol Neurosci 2001 Aug;17(1):71-80. doi: 10.1385/JMN:17:1:71. PMID: 11665864

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