CARROLL MBBS MD FRACP FRCP(E) Clinical Professor of Neurology, Western Australian Research Institute, University of Western Australia, Australia ROONGROJ BHIDAYASIRI MD FRCP Director, Chulalongkorn Comprehensive Movement Disorders Center Chulalongkorn [books.google.es]

disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome [checkrare.com]

infections, and monocytosis Bruck syndrome 1 Pulmonary atresia with ventricular septal defect Follicle-stimulating hormone deficiency, isolated Methylmalonic aciduria, cblA type Dwarfism Microcephaly-albinism-digital anomalies syndrome Tyrosinemia type [checkrare.com]

[…] disease Ataxia-oculomotor apraxia type 1 49,XXXXX syndrome Bardet-Biedl syndrome Radial hypoplasia, triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [checkrare.com]

50% cases Generalized muscle weakness Commonly - More than 50% cases Amenorrhea Not very common - Between 30% and 50% cases Stage 5 chronic kidney disease Commonly - More than 50% cases Primary amenorrhea Not very common - Between 30% and 50% cases Nausea [mendelian.co]

Mukoyama (address see above) started to have intermittent headache with nausea and vomit- ing, which continued for about 1 week. These episodes recur- red once or twice a year. [docslide.com.br]

Rare causes: 1)Ophthalmoplegic migraine - Usually in children - Positive family history of migraine - Headache, nausea, vomiting resolved with onset of paresis - Paresis usually improves within one month; occasionally permanent 2) Cyclic (see XII). 2. [pedseyes.org]

Adenomatous Polyposis, Autosomal Recessive MUTYH Congenital Abnormalities EYA1 Craniosynostosis Radial Aplasia Syndrome RECQL4 Cryptorchidism ATRX Deafness POLD1 Deafness, Autosomal Dominant 10 EYA4 Demyelinating Diseases SIRT1 Dermatitis PARP1 Atopic Eczema [selfdecode.com]

AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease Society of America, the Tourette Syndrome Association Lifetime Achievement Award, the Dystonia [books.google.com]

Ataxia with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia [se-atlas.de]

Autosomal recessive dopa-responsive dystonia # Dopa responsive dystonia due to sepiapterin reductase deficiency Hyperphenylalaninemia 6-pyruvoyl-tetrahydropterin synthase deficiency Dehydratase deficiency Dihydropteridine reductase deficiency GTP cyclohydrolase [repository.innermed.eu]

[…] syndrome Wolf-Hirschhorn syndrome Intellectual disability - hypoplastic corpus callosum - preauricular tag Osteogenesis imperfecta type II Achalasia microcephaly syndrome Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia [checkrare.com]

Mellitus SIRT1 Diabetes Mellitus, Experimental SIRT1 Diabetic Nephropathy TNFAIP1 Diabetic Retinopathy SIRT1 Dna Repair-Deficiency Disorders PNKP Drug Hypersensitivity HSPA1A Drug-Related Side Effects And Adverse Reactions HMGB1 Dyslipidemias NEIL1 Limb Dystonia [selfdecode.com]

Amino Acid Metabolism, Inborn Errors XPC Amyotrophic Lateral Sclerosis 4, Juvenile SETX Anemia PARP1 Anoxia HIM-6 Arthritis, Juvenile GADD45A Arthrogryposis ERCC6 Asthma, Occupational HERC2 Ataxia Telangiectasia ATM Atr-X Syndrome ATRX Attention Deficit Hyperactivity [selfdecode.com]

[…] unilateral nystagmus and 11/20 had head nodding and/or torticollis Associated signs which necessitate CT scan but which did not present initially optic nerve atrophy developed eventually 18/20. diencephalic syndrome - emaciation despite food intake, hyperactivity [pedseyes.org]

Uncommon Symptoms - Between 30% and 50% cases Myopathy Hypertension Cerebellar atrophy Ptosis Nystagmus Hearing impairment Gynecomastia Short stature Renal insufficiency Elevated serum creatine phosphokinase Cognitive impairment Dysarthria Delayed puberty Hyporeflexia [mendelian.co]