Congenital structural myopathy

MONDO:0002921

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

Also known as: centronuclear myopathy

65 clinical trials for this condition and its sub-types, 5 tagged with Congenital structural myopathy itself.

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Where it sits in the disease tree

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Part of

↑ Congenital myopathy (75)

Sub-types of Congenital structural myopathy

Inborn mitochondrial myopathy 18 trials · 45 incl. sub-types
24 sub-types
- Mitochondrial encephalomyopathy 3 trials · 15 incl. sub-types Sub-types →
- Progressive external ophthalmoplegia 4 trials · 8 incl. sub-types Sub-types →
- Barth syndrome 5 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Mitochondrial trifunctional protein deficiency 3 trials Sub-types →
- Myopathy, lactic acidosis, and sideroblastic anemia 3 trials Sub-types →
- Adenosine monophosphate deaminase deficiency 1 trial
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
- COX deficiency, benign infantile mitochondrial myopathy 0 trials
- X-linked recessive mitochondrial myopathy 0 trials
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 0 trials Sub-types →
- Autosomal dominant mitochondrial myopathy with exercise intolerance 0 trials
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 0 trials
- Fatal infantile encephalocardiomyopathy 0 trials Sub-types →
- Lethal infantile mitochondrial myopathy 0 trials
- Maternally-inherited progressive external ophthalmoplegia 0 trials
- Mitochondrial complex I deficiency, nuclear type 1 0 trials
- Mitochondrial complex II deficiency, nuclear type 0 trials Sub-types →
- Mitochondrial myopathy with a defect in mitochondrial-protein transport 0 trials
- Mitochondrial myopathy with diabetes 0 trials
- Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 0 trials
- Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 trials
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 0 trials
- Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 trials
Nemaline myopathy 13 trials
8 sub-types
- Childhood-onset nemaline myopathy 1 trial · 2 incl. sub-types Sub-types →
- Nemaline myopathy 5 2 trials
- Severe congenital nemaline myopathy 0 trials · 1 incl. sub-types Sub-types →
- MYPN-related myopathy 0 trials
- Adult-onset nemaline myopathy 0 trials
- Nemaline myopathy 5B, autosomal recessive, childhood-onset 0 trials
- Nemaline myopathy 5C, autosomal dominant 0 trials
- Typical nemaline myopathy 0 trials Sub-types →
Myofibrillar myopathy 1 trial · 3 incl. sub-types
13 sub-types
- Central core myopathy 2 trials
- Fatal infantile hypertonic myofibrillar myopathy 0 trials
- Myofibrillar myopathy 1 0 trials
- Myofibrillar myopathy 10 0 trials
- Myofibrillar myopathy 11 0 trials
- Myofibrillar myopathy 3 0 trials
- Myofibrillar myopathy 4 0 trials
- Myofibrillar myopathy 5 0 trials
- Myofibrillar myopathy 6 0 trials
- Myofibrillar myopathy 7 0 trials Sub-types →
- Myofibrillar myopathy 8 0 trials
- Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 trials
- Myopathy, myofibrillar, 13, with rimmed vacuoles 0 trials
Congenital fiber-type disproportion myopathy 1 trial
1 sub-type
- Myopathy, congenital, with fiber-type disproportion, X-linked 0 trials
Autosomal dominant centronuclear myopathy 0 trials
Autosomal dominant nebulin-related myopathy 0 trials

Most studied deeper sub-types

MELAS syndrome (13) Kearns-Sayre syndrome (5) MERRF syndrome (5) Autosomal dominant progressive external ophthalmoplegia (1) MELAS syndrome caused by mutation in MTTL1 (1) Nemaline myopathy 6 (1) Nemaline myopathy 8 (1) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (1) Spinocerebellar ataxia with epilepsy (1) Autosomal recessive progressive external ophthalmoplegia (0) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (0) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (0) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (0) Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (0) Congenital myopathy 23 (0) Congenital myopathy 2a, typical, autosomal dominant (0) Congenital myopathy 4B, autosomal recessive (0) Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome (0) MELAS syndrome caused by mutation in MTND1 (0) MELAS syndrome caused by mutation in MTND5 (0)

Including sub-types (65) Tagged with Congenital structural myopathy (5)

Trials to join now! 37 Not yet recruiting 4 Not yet finished but already full! 13 Completed 9 Terminated 2

Congenital structural myopathy

Where it sits in the disease tree

Most studied deeper sub-types

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