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Limb-girdle muscular dystrophy, type 2G(LGMD2G)

MedGen UID:
400895
Concept ID:
C1866008
Disease or Syndrome
Synonyms: LGMD2G; Telethoninopathy
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: TCAP
Cytogenetic location: 17q12
OMIM®: 601954
Orphanet: ORPHA34514

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

Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. . The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: : -Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet. -Movement disorders such as Parkinson's disease. -Diseases such as arthritis or multiple sclerosis. -Vision or balance problems. Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.
Areflexia of lower limbs
MedGen UID:
331771
Concept ID:
C1834537
Finding
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.
Difficulty climbing stairs
MedGen UID:
68676
Concept ID:
C0239067
Finding
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
We walk thousands of steps each day. We walk to do our daily activities, get around, and exercise. Having a problem with walking can make daily life more difficult. . The pattern of how you walk is called your gait. A variety of problems can cause an abnormal gait and lead to problems with walking. These include: : -Injuries, diseases, or abnormal development of the muscles or bones of your legs or feet. -Movement disorders such as Parkinson's disease. -Diseases such as arthritis or multiple sclerosis. -Vision or balance problems. Treatment of walking problems depends on the cause. Physical therapy, surgery, or mobility aids may help.
Difficulty running
MedGen UID:
108251
Concept ID:
C0560346
Finding
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Calf muscle hypertrophy
MedGen UID:
330870
Concept ID:
C1842554
Finding
Rimmed vacuoles
MedGen UID:
340089
Concept ID:
C1853932
Finding
Muscular dystrophy
MedGen UID:
351199
Concept ID:
C1864711
Finding
Proximal muscle weakness in upper limbs
MedGen UID:
356424
Concept ID:
C1866012
Finding
Increased variability in muscle fiber diameter
MedGen UID:
446494
Concept ID:
CN003210
Finding
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Distal lower limb amyotrophy
MedGen UID:
506274
Concept ID:
CN007868
Finding
Muscular atrophy of distal leg muscles.
Proximal upper limb amyotrophy
MedGen UID:
506275
Concept ID:
CN007872
Finding
Muscular atrophy affecting proximally located muscles of the arms.
Foot dorsiflexor weakness
MedGen UID:
506280
Concept ID:
CN007936
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Increased connective tissue
MedGen UID:
400898
Concept ID:
C1866021
Finding
Areflexia of lower limbs
MedGen UID:
331771
Concept ID:
C1834537
Finding
Distal lower limb muscle weakness
MedGen UID:
324514
Concept ID:
C1836450
Finding
Calf muscle hypertrophy
MedGen UID:
330870
Concept ID:
C1842554
Finding
Proximal muscle weakness in upper limbs
MedGen UID:
356424
Concept ID:
C1866012
Finding
Proximal upper limb amyotrophy
MedGen UID:
506275
Concept ID:
CN007872
Finding
Muscular atrophy affecting proximally located muscles of the arms.
Foot dorsiflexor weakness
MedGen UID:
506280
Concept ID:
CN007936
Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
Nat Genet 2000 Feb;24(2):163-6. doi: 10.1038/72822. PMID: 10655062

Prognosis

Zhang R, Yang J, Zhu J, Xu X
Hum Mol Genet 2009 Nov 1;18(21):4130-40. Epub 2009 Aug 12 doi: 10.1093/hmg/ddp362. [Epub ahead of print] PMID: 19679566Free PMC Article
Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE
Nat Genet 2000 Feb;24(2):163-6. doi: 10.1038/72822. PMID: 10655062

Clinical prediction guides

Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB
Neuromuscul Disord 2011 Jun;21(6):433-8. Epub 2011 May 6 doi: 10.1016/j.nmd.2011.03.005. [Epub ahead of print] PMID: 21530252
Zhang R, Yang J, Zhu J, Xu X
Hum Mol Genet 2009 Nov 1;18(21):4130-40. Epub 2009 Aug 12 doi: 10.1093/hmg/ddp362. [Epub ahead of print] PMID: 19679566Free PMC Article
Vainzof M, Moreira ES, Suzuki OT, Faulkner G, Valle G, Beggs AH, Carpen O, Ribeiro AF, Zanoteli E, Gurgel-Gianneti J, Tsanaclis AM, Silva HC, Passos-Bueno MR, Zatz M
Biochim Biophys Acta 2002 Oct 9;1588(1):33-40. PMID: 12379311
Schröder R, Reimann J, Iakovenko A, Mues A, Bönnemann CG, Matten J, Gautel M
J Muscle Res Cell Motil 2001;22(3):259-64. PMID: 11763198

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