CAMFAK syndrome

CAMFAK syndrome
Classification and external resources
OMIM	212540
DiseasesDB	33725

CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome.^[1] The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis.^[2] The disease may occur with or without failure to thrive and arthrogryposis.

Characteristics

Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.

Genetics

CAMFAK syndrome has an autosomal recessive pattern of inheritance.

CAMFAK syndrome is inherited in an autosomal recessive manner.^[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References

↑ Talwar D, Smith SA (October 1989). "CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome". Am. J. Med. Genet. 34 (2): 194–8. doi:10.1002/ajmg.1320340212. PMID 2554729.
1 2 Online Mendelian Inheritance in Man (OMIM) 212540

External links

Wiley InterScience Journal
CAMFAK syndrome at NIH's Office of Rare Diseases
Overview at Orphanet

Pathology of the nervous system, primarily CNS (G04–G47, 323–349)

Inflammation

Brain	Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic

Spinal cord	Myelitis: Poliomyelitis Demyelinating disease Transverse myelitis Tropical spastic paraparesis Epidural abscess

Both/either	Encephalomyelitis Acute disseminated Myalgic Meningoencephalitis

Brain/
encephalopathy

Degenerative

Extrapyramidal and movement disorders	Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff person

Dementia	Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia/Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia

Mitochondrial disease	Leigh disease

Demyelinating

Episodic/
paroxysmal

Seizure/epilepsy	Focal Generalised Status epilepticus Myoclonic epilepsy

Headache	Migraine Familial hemiplegic Cluster Tension

Cerebrovascular	TIA Amaurosis fugax Transient global amnesia Acute aphasia Stroke MCA ACA PCA Foville's Millard–Gubler Lateral medullary Weber's Lacunar stroke

Sleep disorders	Insomnia Hypersomnia Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag

CSF

Other

Spinal cord/
myelopathy

Both/either

Degenerative

SA	Friedreich's ataxia Ataxia telangiectasia

MND	UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA SMA-PCH SMA-LED SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis

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