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Muscular dystrophy, congenital, 1b(MDC1B)

MedGen UID:
346746
Concept ID:
C1858118
Disease or Syndrome
Synonyms: MDC1B
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).
 
OMIM®: 604801
Orphanet: ORPHA98893

Clinical features

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.
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.
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Disease or Syndrome
Spinal rigidity
MedGen UID:
346721
Concept ID:
C1858025
Finding
Diaphragmatic weakness
MedGen UID:
375981
Concept ID:
C1846833
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.
Diaphragmatic weakness
MedGen UID:
375981
Concept ID:
C1846833
Finding
Respiratory failure
MedGen UID:
505385
Concept ID:
CN002603
Finding
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Gowers sign
MedGen UID:
65865
Concept ID:
C0234182
Finding
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Disease or Syndrome
Diaphragmatic weakness
MedGen UID:
375981
Concept ID:
C1846833
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscle hypertrophy
MedGen UID:
387991
Concept ID:
C1858125
Finding
Shoulder girdle muscle weakness
MedGen UID:
500959
Concept ID:
CN003201
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.
Congenital muscular dystrophy
MedGen UID:
505584
Concept ID:
CN003380
Finding
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.
Sternocleidomastoid amyotrophy
MedGen UID:
489579
Concept ID:
CN167762
Finding
Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.
Pectoralis amyotrophy
MedGen UID:
489580
Concept ID:
CN167763
Finding
Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Disease or Syndrome
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Disease or Syndrome
Shoulder girdle muscle weakness
MedGen UID:
500959
Concept ID:
CN003201
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.

Professional guidelines

PubMed

Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy
J Child Neurol 2010 Dec;25(12):1559-81. Epub 2010 Nov 15 doi: 10.1177/0883073810381924. [Epub ahead of print] PMID: 21078917

Recent clinical studies

Etiology

Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L
Neurology 2014 Oct 28;83(18):1634-44. Epub 2014 Oct 1 doi: 10.1212/WNL.0000000000000934. [Epub ahead of print] PMID: 25274841
Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N
Pediatr Neurol 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016. PMID: 20837309
Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F
Hum Mol Genet 2005 Mar 1;14(5):657-65. Epub 2005 Jan 20 doi: 10.1093/hmg/ddi062. [Epub ahead of print] PMID: 15661757
Okinaga T, Mohri I, Fujimura H, Imai K, Ono J, Urade Y, Taniike M
Acta Neuropathol 2002 Oct;104(4):377-84. Epub 2002 Jun 6 doi: 10.1007/s00401-002-0567-z. [Epub ahead of print] PMID: 12200624

Diagnosis

Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N
Pediatr Neurol 2010 Oct;43(4):283-6. doi: 10.1016/j.pediatrneurol.2010.05.016. PMID: 20837309

Prognosis

Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F
Muscle Nerve 2005 May;31(5):602-9. doi: 10.1002/mus.20293. PMID: 15770669
Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F
Hum Mol Genet 2005 Mar 1;14(5):657-65. Epub 2005 Jan 20 doi: 10.1093/hmg/ddi062. [Epub ahead of print] PMID: 15661757

Clinical prediction guides

Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F
Hum Mol Genet 2005 Mar 1;14(5):657-65. Epub 2005 Jan 20 doi: 10.1093/hmg/ddi062. [Epub ahead of print] PMID: 15661757
Okinaga T, Mohri I, Fujimura H, Imai K, Ono J, Urade Y, Taniike M
Acta Neuropathol 2002 Oct;104(4):377-84. Epub 2002 Jun 6 doi: 10.1007/s00401-002-0567-z. [Epub ahead of print] PMID: 12200624

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