Dystroglycanopathy

Classification according to ICD-10
G71.2	Congenital myopathies
E77.8	Other disorders of glycoprotein metabolism
ICD-10 online (WHO version 2019)

Dystroglycanopathy is a group of very rare congenital muscular dystrophies based on a metabolic disorder of glycosylation .

The following classification is currently used:

Alpha-dystroglycan defects

Qualitative or quantitative defects, synonym: alpha dystroglycanopathy

• Primary alpha dystroglycan defects , synonym: alpha dystroglycanopathy, primary
  • Belt dystrophy 2P , synonym: LGMD2P
  • MEB disease with bilateral multicystic leukodystrophy
• Secondary alpha dystroglycan defects , synonym: alpha dystroglycanopathy, secondary
  • FKRP - defects
  • Belt dystrophy 2I
  • Fukutin defects
  • LGMD2U , synonym: limb girdle muscular dystrophy, autosomal recessive, type 2U
  • LGMD due to POMK deficiency
  • LARGE defects
  • Protein-O-mannose defects
    • Pomt1 - shortage
    • Pomt2 - shortage
    • Belt dystrophy 2K
    • LGMD2N

Dystroglycanopathies with congenital muscular dystrophy

CDM caused by dystroglycanopathy, synonym: congenital muscular dystrophies

• With brain and eye abnormalities ORPHA352687
  • MEB disease with bilateral multicystic leukodystrophy
  • Muscle eye brain disease
  • Fukuyama type muscular dystrophy
  • Walker-Warburg Syndrome
• Congenital defect of glycoprotein biosynthesis type Io , synonyms: CDG (Congenital Disorder of Glycosylation) type Io; CDG-Io; CDG syndrome type Io; CDG10; Carbohydrate Deficient Glycoprotein Syndrome Io
• Congenital muscular dystrophy 1C , synonyms: CMD with intellectual disability; CMD-MR
• Congenital defect of glycoprotein biosynthesis type Iu , synonyms: G (Congenital Disorder of Glycosylation) type Iu; CDG-Iu; CDG syndrome type Iu; CDG1U; CMD with intellectual disabilities and severe epilepsy; DPM2-CDG; Carbohydrate Deficient Glycoprotein Syndrome Iu
• CMD with cerebellar involvement , synonym: CMD-CRB
• CDM without intellectual disability

Individual evidence

1. ↑ Alpha-dystroglycan, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
2. ↑ Primary qualitative or quantitative alpha-dystroglycan defects. In: Orphanet (Rare Disease Database).
3. ↑ Articular girdle dystrophy, autosomal recessive, type 2P. In: Orphanet (Rare Disease Database).
4. ↑ Muscle-Eye-Brain Syndrome with bilateral multicystic leukodystrophy. In: Orphanet (Rare Disease Database).
5. ↑ Proteins of the O-glycosylation of alpha-dystroglycan, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
6. ↑ FKRP, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
7. ↑ Limb girdle dystrophy, autosomal recessive, type 2I. In: Orphanet (Rare Disease Database).
8. ↑ Fukutin, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
9. ↑ Limb girdle dystrophy due to ISPD deficiency. In: Orphanet (Rare Disease Database).
10. ↑ Limb girdle muscular dystrophy due to POMK deficiency. In: Orphanet (Rare Disease Database).
11. ↑ Glycosyltransferase-like protein (LARGE gene), qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
12. ↑ Protein-O-mannose -? - 1,2-N-acetylglucosaminyl transferase, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
13. ↑ Protein-O-mannosyltransferase 1, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
14. ↑ Protein-O-mannosyltransferase 2, qualitative or quantitative defects. In: Orphanet (Rare Disease Database).
15. ↑ Limb girdle dystrophy, autosomal recessive, type 2K. In: Orphanet (Rare Disease Database).
16. ↑ Limb girdle dystrophy, autosomal recessive, type 2N. In: Orphanet (Rare Disease Database).
17. ↑ Congenital muscular dystrophy due to dystroglycanopathy. In: Orphanet (Rare Disease Database).
18. ↑ Congenital muscular alpha dystroglycanopathy with brain and eye anomalies. In: Orphanet (Rare Disease Database).
19. ↑ Muscle-Eye-Brain Syndrome with bilateral multicystic leukodystrophy. In: Orphanet (Rare Disease Database).
20. ↑ Muscle-eye-brain disease. In: Orphanet (Rare Disease Database).
21. ↑ Muscular dystrophy, congenital, Fukuyama type. In: Orphanet (Rare Disease Database).
22. ^ Walker-Warburg syndrome. In: Orphanet (Rare Disease Database).
23. ↑ DPM3-CDG. In: Orphanet (Rare Disease Database).
24. ↑ Congenital muscular dystrophy with intellectual disability. In: Orphanet (Rare Disease Database).
25. ↑ Congenital muscular dystrophy with intellectual disability and severe epilepsy. In: Orphanet (Rare Disease Database).
26. ↑ Congenital muscular dystrophy with cerebellar involvement. In: Orphanet (Rare Disease Database).
27. ↑ Congenital muscular dystrophy without intellectual disability. In: Orphanet (Rare Disease Database).

See also

• Glycolylation disorder

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !