Abstract
IntroductionFriedreich’s ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Most of the patients (98%) have an unstable homozygous trinucleotide (GAA) expansion in intron-1 of chromosome 9 and 2% patients are compound heterozygous for GAA expansion and point mutations.Case descriptionWe observed an adolescence onset FRDA exhibiting spinal segmental myoclonus (SSM) in a family. Triplet repeat primed polymerase chain reaction (TP-PCR) demonstrated unstable expansion of >66 GAA repeats.ConclusionsSSM is a unique and rare manifestation of FRDA. This might be the first case report of SSM in FRDA patient.Electronic supplementary materialThe online version of this article (doi:10.1186/s40064-015-1121-5) contains supplementary material, which is available to authorized users.
Highlights
Friedreich’s ataxia (FRDA) is the most common autosomal recessive inherited ataxia, with onset before 25 year of age. It is characterized by progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and loss of joint position and vibration sensations
FRDA is due to mutation of frataxin gene on the long arm of chromosome 9 (Saccà et al 2012; Campuzano et al 1996)
Majority of the patients (98%) have an unstable homozygous expansion of GAA trinucleotide whereas, 2% patients are compound heterozygous for GAA expansion and point mutations
Summary
Friedreich’s ataxia (FRDA) is the most common autosomal recessive inherited ataxia, with onset before 25 year of age. Case description A 19-year-old boy born out of non-consanguineous marriage with normal birth and developmental history, presented with insidious onset, gradually progressive neurologic illness for 9 years He developed progressive unsteadiness of gait resulting in swaying on either side while walking. His parents noticed progressive slurring of speech and scoliosis of thoracic spine He developed involuntary, brief jerky movements of his upper limbs for last 2 years. These involuntary jerky movement of arms appeared spontaneously without pain or abnormal behavior It involved the supraspinatus, deltoid, biceps and brachioradialis muscles. The patient had four siblings including two sisters and two brothers One of his 12 years old younger brother had similar complaints of progressive scoliosis, involuntary, brief, jerky movement of arms, unsteadiness of gait and swaying toward either side during walking for 3 years. He is under regular follow up for the last 2 years with worsening of symptoms
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
