Treatable Rare Movement Disorders
Objective: To classify therapies of RMD into enzyme replacement therapy, specific dietary changes, avoidance or management of certain triggers, and others Background: Rare diseases (RD)…Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge.
Objective: To describe the case of Cerebrotendinous xanthomatosis (CTX) without tendon xanthoma, highlighting the diagnostic challenge due to its rarity, as well as the importance…Disappearance of the clinical and imaging manifestations in Wilson’s disease after controlled therapy with tetrathiomolybdate and zinc
Objective: To present a case with Wilson’s disease (WD) whose neurological and imaging alterations disappeared after ammonium tetrathiomolybdate (AT) and zinc acetate (Zn) controlled therapy. …Deferiprone combined with phlebotomy for aceruloplasminemia
Objective: To evaluate the efficacy and safety of chelation therapy with deferiprone combined with phlebotomy in reducing iron stores and neurological progression in aceruloplasminemia. Background:…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…Phenotype of PLP1-related disorder caused by novel mutation: a case report
Objective: To illustrate phenotype of PLP1-related disorder caused by a novel mutation. Background: Phenotypes of X-linked PLP1-related disorders vary from severe forms of hypomyelinating leukodystrophy-Pelizaeus–Merzbacher…Idiopathic acquired sporadic (non-wilsonian) Hepatocerebral degeneration
Objective: To describe case series of patients with acquired hepatocerbral degeneration of idioapthic cause Background: Acquired (non-wilsonian) Hepato cerebral degeneration (AHD) is a rare neurologic…Non-motor symptoms in ACDY5-associated disease
Objective: To describe non-motor symptoms in a case of ACDY5-associated disease. Background: The hereditary dyskinesia syndrome caused by an ACDY5 mutation was first described in…WILSON’S DISEASE: A Mongolian case
Objective: Objective: To determine the early clinical features that predict younger people who has Wilson’s disease(WD). Background: Backround: WD is fatal neurodegenerative disorder that is…A Pair of Brothers with Aceruloplasminemia Due to a Novel Nonsense Mutation: Unusual Phenotype and Neurological Improvement After Iron-Chelation Therapy with Deferasirox.
Objective: We describe the phenotype of a novel ceruloplasmin mutation and the neurological response to different iron-chelating therapies. Background: Aceruloplasminemia (AC) is a rare autosomal…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.