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Myopathy, autophagic vacuolar, infantile-onset

MedGen UID:: 419364
•Concept ID:: C2931230
•: Disease or Syndrome

Synonyms:	Autophagic vacuolar myopathy; Myopathy, Autophagic Vacuolar, Infantile-Onset; Vacuolar myopathy

Monarch Initiative:	MONDO:0012286
OMIM®:	609500

Definition

Infantile-onset autophagic vacuolar myopathy is characterized by increased cardiac and skeletal muscle glycogen with normal acid maltase (GAA; 606800). Skeletal muscle biopsy shows characteristic intracytoplasmic vacuoles that stain for sarcolemmal proteins and complement proteins. Similar pathologic findings are seen in Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, and X-linked myopathy with excessive autophagy (XMEA; 310440), which has been mapped to Xq28. [from OMIM]

Clinical features

From HPO

Hypertrophic cardiomyopathy

MedGen UID:: 2881
•Concept ID:: C0007194
•: Disease or Syndrome

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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Autophagic vacuoles

MedGen UID:: 107466
•Concept ID:: C0544966
•: Finding

The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.

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Neonatal hypotonia

MedGen UID:: 412209
•Concept ID:: C2267233
•: Disease or Syndrome

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.

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Elevated circulating creatine kinase concentration

MedGen UID:: 69128
•Concept ID:: C0241005
•: Finding

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

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Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Abnormality of the musculoskeletal system
Abnormality of the nervous system
- Global developmental delay

Recent clinical studies

Etiology

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.

Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L
Acta Myol 2003 Dec;22(3):90-6. PMID: 15088498

See all (1)

Diagnosis

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.

Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L
Acta Myol 2003 Dec;22(3):90-6. PMID: 15088498

See all (1)

Therapy

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.

Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L
Acta Myol 2003 Dec;22(3):90-6. PMID: 15088498

See all (1)

Prognosis

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R
Neuromuscul Disord 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. PMID: 11166161

See all (1)

Clinical prediction guides

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.

Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L
Acta Myol 2003 Dec;22(3):90-6. PMID: 15088498

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

See all (2)

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Myopathy, autophagic vacuolar, infantile-onset

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

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