Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with McLeod Neuroacanthocytosis Syndrome

System/ConcernEvaluationComment
Neurologic For movement disorder
  • Choreiform mvmts; head drop
  • Apply UHDRS & perform brain MRI.
For seizures
  • Usually generalized seizures
  • Perform EEG. 1
For neuromuscular involvement
  • Absent DTRs, muscle weakness, or atrophy
  • Determine serum CK, ALT, AST, & LDH levels.
  • EMG & NCV studies
Cognitive To incl motor, speech/language eval, & general cognitive skills
  • Executive deficits
  • Perform formal neuropsychological eval &/or Montreal cognitive assessment.
Psychiatric For frontal-type deficits: personality disorder, anxiety, depression, OCD, bipolar disorder, schizo-affective disorder
  • Perform standardized psychiatric assessment; eval of symptom-oriented psychotherapeutic & psychopharmacologic interventions.
  • Contact w/patient advocacy org may provide addl benefit. 2
Feeding Feeding/nutritional assessment
  • Feeding dystonia
  • Consider clinical &/or fiberoptic feeding eval
Cardiac Dilated cardiomyopathy, atrial fibrillation, tachyarrhythmia
  • Usually develop over time 1
  • Perform echocardiography, Holter EKG, & cardiac biomarker analysis (e.g., Troponin T/I, pro-BNP).
  • If available, perform cardiac MRI & electrophysiologic investigations.
Hematologic Immunohematologic eval:
  • Erythrocyte phenotyping for Kell & Kx antigens
  • Expression of Kell protein by flow cytometry
  • Search for anti-public alloantibodies
  • Direct antiglobulin test 3
  • ↑ risk of transfusion reactions w/repetitive blood transfusions
  • Consider autologous blood banking when planned surgery may require blood transfusions.
  • Consider homologous blood banking for emergencies.
Liver Abdominal ultrasound examScreening for hepatosplenomegaly
Genetic counseling By genetics professionals 4To inform patients & families re nature, MOI, & implications of MLS in order to facilitate medical & personal decision making
Family support
& resources 		Assess need for:
  • Community or online resources;
  • Social work involvement for caregiver support;
  • Home nursing referral.

DTRs = deep tendon reflexes; EEG = electroencephalogram; EKG = electrocardiogram; OCD = obsessive-compulsive disorder; UHDRS = Unified Huntington Disease Rating Scale

1.

Early recognition and treatment of cardiac manifestations and seizures are important, as these potential complications may be severe and could cause premature death [Danek et al 2001a, Hewer et al 2007, Walker et al 2019].

2.
3.
4.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: McLeod Neuroacanthocytosis Syndrome

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