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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia
1 OMIM reference -
1 associated gene
13 signs/symptoms
Congenital fiber-type disproportion myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

ACTA1
(UniProt - OMIM)
 CCT5
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTA1
(0.88)
CCT5


Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Congenital fiber-type disproportion myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Synonym(s):
- CFTDM
Synonym(s):
- HSAN with spastic paraplegia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal recessive inheritance

Congenital fiber-type disproportion myopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



Very frequent
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis