Behr syndrome: Difference between revisions

Behr syndrome is a rare, inherited, neurological disorder characterized by a variety of symptoms, including optic atrophy, ataxia, spasticity, and mental retardation. The syndrome was first described by Carl Behr, a German ophthalmologist, in 1909.

Symptoms and Signs

Behr syndrome presents in early childhood, typically before the age of five. The most common symptom is optic atrophy, which leads to progressive vision loss. Other symptoms can include ataxia, or lack of muscle control, spasticity, or muscle stiffness, and mental retardation. Some patients may also experience peripheral neuropathy, pyramidal signs, and urinary incontinence.

Causes

Behr syndrome is a genetic disorder, inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for a child to be affected. The specific gene associated with Behr syndrome is not yet known.

Diagnosis

Diagnosis of Behr syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis, but is not always necessary. MRI may show atrophy of the optic nerve and other brain abnormalities.

Treatment

There is currently no cure for Behr syndrome. Treatment is supportive and aims to manage symptoms. This can include physical therapy for muscle stiffness and ataxia, and special education for mental retardation. Regular eye examinations are also important to monitor vision loss.

Prognosis

The prognosis for individuals with Behr syndrome varies. Some individuals may have a normal lifespan, while others may experience significant disability and require lifelong care.

NIH genetic and rare disease info

NIH info on Behr syndrome

Behr syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Behr syndrome

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Also see	* Comprehensive list of genetic and rare diseases
Resources	* NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

Neurological disorders

General	* Neurodegeneration Neurodevelopmental disorders Neuroinflammatory disorders Neuromuscular disorders Neurovascular diseases
Diseases	* Alzheimer's disease Amyotrophic lateral sclerosis Autism spectrum disorder Cerebral palsy Epilepsy Migraine Multiple sclerosis Parkinson's disease Schizophrenia Stroke Traumatic brain injury
Symptoms and signs	* Aphasia Ataxia Confusion Headache Memory loss Neuropathic pain Seizure Tremor Vertigo
Diagnosis and treatment	* Brain imaging Cerebrospinal fluid analysis Electroencephalography Lumbar puncture Neurological examination Neurosurgery Physical therapy Speech therapy
Related	* Neurology Neuroscience Psychiatry Neurological examination Neuroscientist Neurosurgeon