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Autosomal recessive centronuclear myopathy(CNM2)

MedGen UID:
98049
Concept ID:
C0410204
Disease or Syndrome
Synonyms: Centronuclear Myopathy 2; CNM2; MYOPATHY, CENTRONUCLEAR, 2; Myopathy, centronuclear, autosomal recessive; MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE
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).
SNOMED CT: Autosomal recessive centronuclear myopathy (240081004)
 
Gene (location): BIN1 (2q14.3)
OMIM®: 255200
Orphanet: ORPHA169186

Definition

Centronuclear myopathy is a condition that primarily affects skeletal muscles, which are the muscles that are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive. People with autosomal dominant centronuclear myopathy typically have normal early development. However, muscle weakness usually becomes evident during adolescence or early adulthood. The first symptoms are usually muscle pain during exercise and difficulty walking. Muscle weakness progressively worsens, and some people with this condition require wheelchair assistance in mid- to late adulthood. People with this condition may have weakness in the muscles that control eye movement (ophthalmoplegia) and droopy eyelids (ptosis). Rarely, affected individuals have disturbances in nerve function (neuropathy) or intellectual disability. Some people with autosomal dominant centronuclear myopathy are more severely affected and experience muscle weakness in infancy. These individuals walk at a later age than their peers, and they typically need wheelchair assistance in childhood or adolescence. Autosomal recessive centronuclear myopathy is also characterized by progressive muscle weakness, which is usually apparent at birth or begins in childhood. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Some people experience mild to severe breathing problems related to the weakness of muscles needed for breathing. Rarely, the heart muscle is weakened (cardiomyopathy). Affected individuals frequently have ptosis, but ophthalmoplegia is less common.
[from GHR]

Clinical features

Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoplegia
MedGen UID:
504518
Concept ID:
CN000564
Finding
Paralysis of one or more extraocular muscles that are responsible for eye movements.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Disease or Syndrome
Trouble with the voice when trying to talk, including hoarseness and change in pitch or quality or voice.
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Intellectual disability, mild
MedGen UID:
504770
Concept ID:
CN001151
Finding
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Kyphosis
MedGen UID:
335104
Concept ID:
C1845112
Finding
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Hyperlordosis
MedGen UID:
505513
Concept ID:
CN002983
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Dysphonia
MedGen UID:
282893
Concept ID:
C1527344
Disease or Syndrome
Trouble with the voice when trying to talk, including hoarseness and change in pitch or quality or voice.
Respiratory insufficiency due to muscle weakness
MedGen UID:
332136
Concept ID:
C1836141
Finding
Gowers sign
MedGen UID:
65865
Concept ID:
C0234182
Finding
Distal muscle weakness
MedGen UID:
140883
Concept ID:
C0427065
Finding
Neonatal hypotonia
MedGen UID:
331807
Concept ID:
C1834679
Finding
Respiratory insufficiency due to muscle weakness
MedGen UID:
332136
Concept ID:
C1836141
Finding
Axial muscle weakness
MedGen UID:
334472
Concept ID:
C1843697
Finding
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
EMG: myopathic abnormalities
MedGen UID:
428350
Concept ID:
CN003118
Finding
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Centrally nucleated skeletal muscle fibers
MedGen UID:
505572
Concept ID:
CN003333
Finding
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Scapular winging
MedGen UID:
505574
Concept ID:
CN003337
Finding
Abnormal protrusion of the scapula away from the surface of the back.
Generalized amyotrophy
MedGen UID:
505577
Concept ID:
CN003344
Finding
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Talipes equinovarus
MedGen UID:
335852
Concept ID:
C1842988
Finding
Pes cavus
MedGen UID:
425071
Concept ID:
CN001601
Finding
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
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

Professional guidelines

PubMed

Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J
Eur J Hum Genet 2012 Oct;20(10) Epub 2012 May 23 doi: 10.1038/ejhg.2012.91. [Epub ahead of print] PMID: 22617344Free PMC Article

Recent clinical studies

Etiology

Böhm J, Yiş U, Ortaç R, Cakmakçı H, Kurul SH, Dirik E, Laporte J
Orphanet J Rare Dis 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35. [Epub ahead of print] PMID: 21129173Free PMC Article

Diagnosis

Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J
Brain 2014 Dec;137(Pt 12):3160-70. Epub 2014 Sep 25 doi: 10.1093/brain/awu272. [Epub ahead of print] PMID: 25260562
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH
J Neuropathol Exp Neurol 2005 Jul;64(7):555-64. PMID: 16042307

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