Troyer syndrome

Classification according to ICD-10
G11.4	Hereditary spastic paraplegia
ICD-10 online (WHO version 2019)

The Troyer syndrome is a very rare, under the short name SPG20 to the hereditary spastic paraplegia associated congenital disease with the main features of an already in early childhood onset spastic paraparesis of the legs and a flaccid paralysis of the small hand muscles.

Synonyms are: Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting; Spastic Paraplegia, Autosomal Recessive, Troyer Type

The name refers to the name of the first family in which the disease was observed among the Amish in 1967 by the American human geneticists Harold E. Cross and Victor Almon McKusick .

distribution

So far only 20 patients have been described, the disease only seems to occur in the Amish, the inheritance is autosomal - recessive .

root cause

The disease are mutations in SPG20 - gene in chromosome 13 locus q13.3 based encoding the Spartin protein. This leads to degeneration with the death of muscle cells and motor neurons and a progressive loss of muscle and nerve functions.

Clinical manifestations

Clinical criteria are:

• Manifestation in the first years of life
• delayed motor development
• spastic leg paresis with increased muscle reflexes and Babinski's signs
• Speech development delay , slurred speech
• slight short stature
• Paresis or atrophy of the thenar , hypothenar Mm intereossei in childhood
• Hyperextensible fingers
• often hollow and club foot
• slight cerebellar symptoms
• often salivating abnormalities
• Lack of emotional stability

Differential diagnosis

Other forms of hereditary spastic paraplegia and Charlevoix-Saguenay syndrome must be distinguished .

therapy

The treatment is directed against the spasticity of the muscles and should avoid complications .

literature

• S. Butler, KL Helbig, W. Alcaraz, LH Seaver, DT Hsieh, L. Rohena: Three cases of Troyer syndrome in two families of Filipino descent. In: American journal of medical genetics. Part A. [electronic publication before printing] April 2016, doi: 10.1002 / ajmg.a.37658 , PMID 27112432 .
• H. Tawamie, E. Wohlleber, S. Uebe, C. Schmäl, MM Nöthen, R. Abou Jamra: Recurrent null mutation in SPG20 leads to Troyer syndrome. In: Molecular and cellular probes. Vol. 29, No. 5, October 2015, pp. 315-318, doi: 10.1016 / j.mcp.2015.05.006 , PMID 26003402 .

Individual evidence

1. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b} Spastic paraplegia, autosomal recessive, type 20. In: Orphanet (database for rare diseases).
3. ↑ SPG20.  In: Online Mendelian Inheritance in Man . (English)
4. ^ Genetics Home Reference
5. ↑ ^{a b} Gene Reviews

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !