Fahr's Syndrome

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Clinically Relevant Anatomy

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Pathological Process/Prognosis

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Clinical Presentation

Lesions in the basal ganglia can cause patients to present with different motor deficits. These include slowness of movement, involuntary extra movement and alterations in posture and muscle tone (O’sullivan physical rehabilitation text). Therefore patients with basal ganglia involvement can present on a continuum of motor behaviour from severely limited as seen in the final stages of Parkinson’s disease to excessive movements apparent in Huntington’s disease (O’sullivan physical rehabilitation text).  In “Fahr’s Disease Registry”, the most common symptoms were movement disorders, in particular parkinsonism, which affects more than half of patients (Calabro R, Spadaro L, Marra A, Bramanti P 2014).

Associated Movement Disorders

Dystonia: is a movement disorder that causes sustained muscle contractions, abnormal postures and repetitive twisting movements that can vary in speed (). Dystonia can affect one or several regions of the body (Bressman SB 2004). There is presently no cure for dystonia, but the goal is to help decrease the severity of muscle spasms, pain and awkward postures to improve overall quality of life (The Dystonia Society).

Athetosis: involuntary movement disorder characterised by slow, smooth, sinuous, writhing movements, also described as “wormlike movements” (O’sullivan rehabilitation tex). More common in the distal upper extremities, also prevalent in other areas of the body such as face, trunk, neck and tongue(Haines DE, Ard MD 2006). Pure Athetosis is uncommon, usually presents with a combination of spasticity, tonic spasms, or chorea.  (Chapter 6, page 212 O’sullivan Rehabilitation textbook).

Chorea: described as abnormal movement involving involuntary, irregular, purposeless, non-rhythmic, abrupt, rapid and unsustained, that can flow from one area of the body to another. These movements can vary in amplitude, small movements of the fingers to flailing of limb movements, referred to as ballism (Chorea causes and management leWitt). Patients are at an increased falls risk due to impairments in balance, strength and increased fatigue. Musculoskeletal and respiratory changes can result in physical deconditioning and contribute to decreased participation in daily activities and social participation (European Huntington’s Disease Network)

Spasticity: motor disorder characterized by a velocity dependent increase in muscle tone with increased resistance to stretch, the larger and quicker the stretch, the stronger the resistance of the spastic muscle. During the rapid movement, a sudden inhibition or letting go of the limb termed the “clasp knife” response may follow initial high resistance. (Chapter 5, page 169, O’sullivan Physical rehabilitation textbook).

Chronic spasticity is associated with contracture, abnormal posturing and deformity, muscle weakness, functional limitations and disability. (ODwyer N, Ada L, Neilson P.)

Tremor: (O’sullivan rehabilitation text) is an involuntary shaking movement.  It can be seen in the extremities, usually as a resting tremor seen when a patient is at rest, or in the head and trunk when the patient is trying to hold an upright posture.  A resting tremor can eventually progress to an action tremor, which is tremor with movement. Although the pathophysiology is slightly different, Parkinson’s patients tend to exhibit a mild tremor first on only one side of the body; there is not enough data to decisively say if this it true for Fahr’s patients.  Tremors tend to worsen with stress, anxiety or an excited emotional state. Particularly in later stages, tremors interfere with the ability to perform fine motor tasks such as picking up or holding objects.

Rigidity: (O’sullivan rehabilitation text) is an increased resistance to passive movement that is not affected by speed or amplitude of motion.  There are two types: lead pipe - which is constant throughout range - and cogwheel - which is jerky with tension felt intermittently throughout a movement.  Rigidity affects a patient’s ability to move and therefore independently carry out activities of daily living (ADLs). In many patients, rigidity can be increased by stress or active movements. --

Hypomimia: (Tickle-Degnen L, Zebrowitz LA, Ma H) is the reduced ability to portray facial expressions, both automatic and voluntary, that is often seen in Parksinon’s and Fahr’s patients.  This frozen, masked expression is often incorrectly interpreted by others as depression, coldness, apathy and reduced cognition. This can cause difficulty in communication and relationships, including patient-therapist relationships; studies have shown that practitioners - including physiotherapists - tend to view patients with facial masking as more depressed, less sociable and less cognitively competent.  Therefore it is an important component of the treatment of Fahr’s disease to not allow oneself to form negative preconceptions about a client based on a symptom they cannot control.

Gait: is affected by Fare’s disease similar to Parkinson’s disease.  Fare’s patients can exhibit unsteadiness, clumsiness, a shuffling gait, or freezing of gait (Stamelou).  Gait abnormalities can be exacerbated by other symptoms such as tremor or rigidity (O’sullivan Rehabilitation text).

Diagnostic Procedures

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Differential Diagnosis

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Assessment and Outcome Measures

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Medical Management

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Physiotherapy Intervention

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Resources for Patients

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