Tag Archives: Dystonia
Diagnosis: This is a clinical diagnosis Clinical features: Attacks of torticollis The attacks usually last <1 week Recur every few days to every few months Improve by age 2 years, and resolve by age 3 Family history of migraine Often develop migraine later on in life Related articles: Approach to movement disorders, dystonia, genetic dystonia, … Continue reading Benign Paroxysmal Torticollis
Fahr disease
Synonyms: a.k.a. idiopathic basal ganglia calcification Diagnosis: A combination of clinical features, imaging and other testing Clinical features: 30-60 y.o. Progressive dystonia, dysphagia, neuropsychiatric symptoms, ataxia Genetics: Autosomal dominant Chr. 14q, Findings on investigations: CT: calcification in the globus pallidus, but also occurs in putamen, caudate, dentate, thalamus and cerebral white matter Serum calcium & … Continue reading Fahr disease
Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency
Synonyms: Hypoxanthine-guanine phosphoribosyltransferase HPRT deficiency a.k.a. Lesch-Nyhan disease Diagnosis: Genetics: X-linked Protein= hypoxanthine-guanine phosphoribosyltransferase HPRT Clinical features: Dystonia, athetosis, Self mutilation (lip & finger biting) Mental retardation (learning disability) Severe gout, renal failure Findings on investigations: Uric acid: high Related articles: Approach to movement disorders,
Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2
Synonyms: Neuroferritinopathy a.k.a. Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2 Diagnosis: Genetics: Autosomal dominant Genetic: gene = FTL1, ferritin light chain gene. 460InsA mutation Clinical features: Focal dystonia, chorea, Parkinsonism. Cognitive effects occur later on. Iron studies, etc: Ferritin: low in men & post menopausal women. Normal in premenopausal women Fe … Continue reading Hereditary ferritinopathy and neurodegeneration with brain iron accumulation type 2 NIBA2
Hemifacial Spasm
Diagnosis: Clinical features: Episodic unilateral twitching of the face. May lead to eye closure, but is distinguished from blepharospasm by being unilateral and often having an upgoing forhead muscle ipsilateral to the facial twitch A type of segmental myoclonus involving the muscles supplied by the facial nerve (cranial nerve VII) Investigations to consider: Consider if … Continue reading Hemifacial Spasm
Stiff Person Syndrome
Synonyms: formerly stiff man syndrome a.k.a. Moersch-Woltmann syndrome Diagnosis: Clinical and electrophysiological features, supplemented by antibody tests Diagnosis by exclusion: Absence of any other neurologic disease or chronic pain syndromes that could explain stiffness and rigidity. This condition is often mis-diagnosed as psychogenic dystonia Clinical features: Rigidity: Insidious onset, Limbs and axial (trunk) muscles, most … Continue reading Stiff Person Syndrome
Tardive Dyskinesia
Diagnosis: Hyperkinetic movements due to use of dopamine receptor blocking drugs Types: Orofacial stereotypy Dystonia Treatment: Stop the offending drug Consider: Valbenazine [KINECT3 RCT] Reserpine If tardive dystonia: Anticholinergics: trihexyphenidyl Botulinum toxin injection If dystonia: Diphenhydramine Benzatropine Consider deep brain stimulation DBS of globus pallidus interna GPi Related articles: Approach to movement disorders, References: Hauser … Continue reading Tardive Dyskinesia
Genetic Dystonia
These are a group of dystonias Oppenheim’s dystonia a.k.a. dystonia musculorum deformans 1 a.k.a. DYT1: Diagnosis: Genetics: Autosomal dominant Torsin A gene, chr. 9q34 Clinical features: <26 y.o. starts as a focal dystonia (usually foot) then generalises Lubag a.k.a. X-linked dystonia Parkinsonism a.k.a. DYT3: Diagnosis: X-linked, Xq13.1, TAF1 gene, protein= transcription factor, Adults, 30y.o. (large … Continue reading Genetic Dystonia
Paroxysmal Dyskinesia
Synonyms: a.k.a. paroxysmal dystonia General points: There are two subtypes: Kinesiogenic paroxysmal dystonia Non-Kinesiogenic paroxysmal dystonia Kinesiogenic paroxysmal dystonia: Diagnosis: Precipitated by sudden movements Lasts <5 minutes, recurs up to 100/day Treatment: Carbamazepine CBZ, Phenytoin PHT Non-kinesiogenic paroxysmal dystonia (formerly paroxysmal dystonic choreoathetosis, Mount–Reback syndrome): Diagnosis: This condition is DYT8 a form of genetic dystonia … Continue reading Paroxysmal Dyskinesia
Meige Syndrome
Diagnosis: This is a clinical diagnosis Clinical features: Blepharospasm +orofacial dyskinesia (includes tongue & jaw) Difficulty chewing Related articles: Approach to movement disorders,
Generalised Dystonia or Segmental Dystonia
Diagnosis: Clinical features: Segmental: to adjacent regions Mutifocal: nonadjacent regions Hemidystonia: ipsilateral arm & leg Generalised: leg +trunk +another region Trial of levodopa, 2 months long to rule out dopa responsive dystonia. Treatment: Trial of levodopa, 2 months long. This should be tried in all childhood onset dystonias Anticholinergics: e.g. Trihexyphenidyl Others: Clonazepam, Baclofen or … Continue reading Generalised Dystonia or Segmental Dystonia
Focal Dystonia
Diagnosis: Clinical Focal dystonia: i.e. dystonia involving 1 region Types: Blepharospasm: involuntary bilateral eye closure Oromandibular dystonia Spasmodic dysphonia Cervical dystonia: Spasmodic (intermittent) or sustained Torticollis: turned/rotated Retrocollis: extended Anterocollis: flexed Laterocollis: tilted Focal hand dystonia Task specific dystonia: Writers cramp (graphospasm), piano players cram, guitar players cramp, golf, running Investigations to consider: Consider: MRI … Continue reading Focal Dystonia