Table 2. Dys Patients Classified Following the Newer Classification System of Dystonia. The table shows the specific diagnosis of Dys for each patient in study based on the Axis I (clinical features) and Axis II (etiologies) of the newer Dys classification system.4 .
| Subject# | Diagnosis (As Received) | Dystonia Diagnosis based on the Newer Classification | Dystonia Diagnosis based on the Newer Classification |
|---|---|---|---|
|
| |||
| Axis I | Axis II | ||
|
| |||
| (Clinical Features) | (Etiology) | ||
| 1 (Dys) | Dystonia | Age at onset: not reported (probably childhood-onset as for medical history) | Nervous system pathology: no evidence of degeneration or structural lesions |
| Body distribution: not reported (probably generalized as for medical history) | Inherited: possible | ||
| Temporal pattern: not reported | Acquired: no | ||
| Variability: not reported | Idiopathic: yes | ||
| Associated features: unknown/not clinically significant | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 2 (Dys) | Dystonia (started as blepharospasm in 1983, 22 years of dystonia history until death) | Age at onset: late adulthood | Nervous system pathology: no evidence of degeneration or structural lesions |
| Body distribution: initially focal, then segmental (oromandibular dystonia with jaw closure and lip pursing, facial grimacing) | Inherited: no (aunt, mother's sister, with resting tremor) | ||
| Temporal pattern: static | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: headache (with temporal and orbital pain) | |||
| Occurrence of other neurological/systemic manifestations: tardive dyskinesia secondary to adverse effects to metoclopramide, moderate bradykinesia, rigidity, and rest tremor; possible side effects of various drugs used for the treatment of the blepharospasm | |||
| 3 (Dys) | Dystonia (started at 42 years old: adulthood onset, focal and segmental) | Age at onset: late adulthood | Nervous system pathology: evidence of degeneration (SN) |
| Body distribution: focal, segmental (face, neck, shoulders), dysphagia | Inherited: no (mother with PD) | ||
| Temporal pattern: static | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: unknown/not clinically significant | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 4 (Dys) | Dystonia (generalized) | Age at onset: childhood | Nervous system pathology: no evidence of degeneration or structural lesion |
| Body distribution: generalized (with leg involvement) | Inherited: no | ||
| Temporal pattern: progressive | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: headache (not clinically significant) | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 5 (Dys) | Dystonia (generalized) | Age at onset: childhood | Nervous system pathology: cerebellar cortical degeneration |
| Body distribution: multifocal neck, trunk, limbs), segmental (leg involvement) | Inherited: no | ||
| Temporal pattern: progressive | Acquired: no | ||
| Variability: paroxysmal | Idiopathic: yes | ||
| Associated features: pain, headache | |||
| Occurrence of other neurological/systemic manifestations: frontal lobe intracerebral hemorrhage (after many years of generalized dystonia) | |||
| 6 (Dys) | Dystonia (cervical dystonia for >4 decades) | Age at onset: early adulthood | Nervous system pathology: no evidence of degeneration or structural lesion |
| Body distribution: segmental (started as cervical dystonia, then mouth and lingual involvement) | Inherited: unknown (father with head tremor) | ||
| Temporal pattern: progressive (mount involvement, paraspinal muscles spasm, spastic dysphonia) | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: facial pain | |||
| Occurrence of other neurological/systemic manifestations: resting hand tremor (later, after many years cervical dystonia appearance) | |||
| 7 (Dys) | Dystonia | Age at onset: childhood | Nervous system pathology: no evidence of degeneration or structural lesion |
| Body distribution: segmental (truncal, paraspinal spams with lordosis) | Inherited: no | ||
| Temporal pattern: diurnal | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: spastic dysphonia, tremor started in 6th grade | |||
| Occurrence of other neurological/systemic manifestations: unknown | |||
| 8 (Dys) | Dystonia | Age at onset: late adulthood | Nervous system pathology: evidence of degeneration (SN), LB pathology |
| Body distribution: segmental (started as blepharospasm then spasmodic dysphonia; lip pursing, grimacing, and jaw opening) | Inherited: no | ||
| Temporal pattern: static | Acquired: no | ||
| Variability: diurnal (getting worse with action); not action-specific but with associated | Idiopathic: yes | ||
| features of late-onset tardive dyskinesia (oromandibular, pharyngeal, and facial dystonia) due to possible side effects of neuroleptic drugs (perphenazine/amitriptyline) | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 9 (Dys) | Dystonia | Age at onset: childhood (probably) | Nervous system pathology: cerebellar atrophy (moderate) |
| Body distribution: generalized | Inherited: no | ||
| Temporal pattern: progressive (probably) | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: unknown/not clinically significant | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 10 (Dys) | Dystonia (posttraumatic) | Age at onset: childhood | Nervous system pathology: cerebellar atrophy, LBs in the SN and LC |
| Body distribution: focal (right hand) | Inherited: no | ||
| Temporal pattern: static | Acquired: yes, (posttraumatic) | ||
| Variability: persistent | Idiopathic: no | ||
| Associated features: tremor (right hand) | |||
| Occurrence of other neurological/systemic manifestations: unknown/not clinically significant | |||
| 11 (Dys) | Dystonia (generalized in combination with cervical myelopathy; initial cervical dystonia at 27 years old) | Age at onset: early adulthood | Nervous system pathology: diffuse LB pathology (brainstem, cortex), cerebellar heterotaxia (white matter) |
| Body distribution: generalized | Inherited: possible (reported familiarity for movement disorders) | ||
| Temporal pattern: progressive (started as cervical dystonia/torticollis then progressed with arms and legs) | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: marked diffuse tremor | |||
| Occurrence of other neurological/systemic manifestations: possible dementia | |||
| 12 (Dys) | Dystonia | Age at onset: early adulthood | Nervous system pathology: no evidence of degeneration or structural lesion |
| Body distribution: generalized | Inherited: possible (daughter with dystonia) | ||
| Temporal pattern: progressive | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: unknown/not clinically significant | |||
| Occurrence of other neurological/systemic manifestations: mastectomy for breast cancer | |||
| 13 (Dys) | Dystonia | Age at onset: childhood (probably) | Nervous system pathology: no evidence of degeneration or structural lesion (metastatic cells in cerebrum, cerebellum, brainstem) |
| Body distribution: generalized | Inherited: no | ||
| Temporal pattern: progressive | Acquired: no | ||
| Variability: diurnal | Idiopathic: yes | ||
| Associated features: unknown/not clinically significant | |||
| Occurrence of other neurological/systemic manifestations: lung cancer | |||
Abbreviations: C, Control; Dys, Dystonia; LB, Lewy Body; LC, Locus Coeruleus; PD, Parkinson's Disease; SN, Substantia Nigra.