Table 2.
Neurological features
| Case- family | Speech | Gait | Extrapyramidal features | BFM | Other motor features | Cognition | Behaviour | Evolution |
|---|---|---|---|---|---|---|---|---|
| 1–1 | Moderate dystonic dysarthria | Limited by dystonic posturing but stands with support | Moderate generalized dystonia affecting face, trunk, limbs | 48 | Brisk leg reflexes, ankle clonus | NA | Aggressive | Hypotonia and posturing at 6 months; stable by 2 years |
| 2–2 | Severe dystonic dysarthria | Severe posturing prevents standing or walking | Severe generalized dystonia affecting face, neck, trunk, limbs | 66 | Brisk leg reflexes, ankle clonus | NA | Aggressive, coprolalia, ‘likes to flirt with danger’ | Motor and speech delay noted by 1 year; involuntary movements by 2 years; stable thereafter |
| 3–3 | Severe dystonic dysarthria | Severe posturing prevents standing or walking | Severe generalized dystonia affecting face, neck, trunk, limbs | 82.5 | Mild leg spasticity | Poor attention | Oppositional behaviour | NA |
| 4–4 | Normal | Normal | Mild overflow posturing of hands | 2 | Poor attention, IQ = 89 | Normal | Floppy head noted at 6 months; normal thereafter | |
| 5–5 | Severe dystonic dysarthria | Severe posturing prevents standing or walking | Severe generalized dystonia affecting face, neck, trunk, limbs; rare myoclonic jerks | 47 | Brisk arm and leg reflexes | Special education | Inappropriate affection, even with strangers | Motor and speech delay noted by 1 year; stable thereafter |
| 6–6 | Moderate dystonic dysarthria, hesitant, telegraphic | Normal but awkward running and hopping | Mild generalized dystonia | 19 | Brisk leg reflexes | Special education, IQ = 79 | Impulsive, oppositional | Motor and speech delay noted by 2 years; stable thereafter |
| 7–7 | Transient childhood speech disorder | Normal | Mild hand clumsiness with overflow posturing | 8 | ADHD, IQ = 108 | Onychophagia, impulsive, Asperger syndrome | Persistent stable clumsiness noted by 1 year; transient speech disorder | |
| 8–8 | Normal | Normal | Chronic tic disorder | 0 | Normal, IQ = 146 | Normal | None | |
| 9–5 | Moderate dystonic dysarthria | Independent but very slow and laboured with very stiff appearance | Moderate generalized dystonia with mild rigidity and myoclonic jerks | 34 | Brisk leg reflexes, ankle clonus | Special education | Normal | Motor and speech delay noted by 2–4 years; stable thereafter |
| 10–8 | Normal | Normal | Slightly slow/clumsy hand movements with exercise-induced dystonia | 7a | ADHD, IQ = 117 | Normal | None | |
| 11–9 | Normal | Independent but heavy appearance, awkward | Slow hand movements, overflow hand posturing | 2 | Brisk leg reflexes, ankle clonus, | IQ = 82 | Normal | Transient hypotonia in infancy |
| 12–8 | Slight dystonic dysarthria | Slightly slowed, reduced arm swing | Slow hand movements | 1 | None | Normal, IQ = 134 | obsessive-compulsive disorder | None |
| 13–10 | Moderate dystonic dysarthria | Leg spasms prevent standing or walking | Severe generalized dystonia | NA | Brisk leg reflexes, ankle clonus | Special education | Normal | Drinks 3l/day of water |
| 14–11 | Slightly indistinct | Independent but heavy appearance, cannot edge walk | Slow/clumsy limb movements, rare facial twitches | 3 | Ankle clonus | IQ = 56 | Normal | None |
| 15–9 | Tongue–jaw synkinesis and transient childhood speech disorder | Normal | Slow hand movements, tic-like shoulder shrug and head roll | 0.5 | Brisk leg reflexes, ankle clonus | IQ = 66 | Normal | Transient childhood speech impediment |
| 16–12 | Moderate dystonic dysarthria | Truncal hypotonia with dystonic leg posturing prevents standing or walking | Moderate generalized dystonia affecting face, neck, trunk, limbs; bradykinesia and rigidity without cogwheeling | 22.5 | Two seizures during childhood | IQ = 86 | Normal | Motor and speech delay noted by 1 year; involuntary movements 2–4 years; progressive gait disability from 8 years |
| 17–13 | History of stress-induced dysarthria | Normal | None | 0 | Brisk arm and leg reflexes, ankle clonus | Poor school performance, IQ = 86 | Severe onychophagia sometimes to bleeding | Motor delay and sialorrhea noted by 2 years; resolved thereafter |
| 18–14 | Normal | Normal | None | 0 | None | ADHD, IQ = 89 | Onychophagia, impulsive, bad behaviors (lying, stealing, etc.) | None |
| 19–15 | Mild dystonic dysarthria | Normal but cannot edge walk | Slightly slowed/clumsy hand movements | 7.5 | Brisk leg reflexes, ankle clonus | Normal | NA | NA |
| 20–16 | Slightly slow and indistinct | Slightly slowed | Hypomimia, slow hand movements with overflow posturing | 6 | Brisk leg reflexes, ankle clonus | Significantly impaired | Normal | Motor and speech delay noted by 2 years; stable thereafter |
| 21–17 | Hypophonic | Normal | Slightly slowed hand movements | 2 | None | Repeated 1st grade | Aggressive, labile mood, ‘rebellious’ | NA |
| 22–18 | Severe dystonic dysarthria | Severe posturing prevents standing or walking | Severe generalized dystonia affecting face, neck, trunk, limbs | 60 | Brisk arm and leg reflexes, reduced distal muscle bulk | IQ = 67 | None | Motor and speech delay noted by 1 year; progressive gait disability with falls from 6 to 12 years |
| 23–14 | Sightly slowed and indistinct, intermittent jaw dystonia, childhood stuttering | Normal except overflow hand posturing | Slow/clumsy hand movements | 7 | None | IQ = 83 | None | Clumsiness progressively apparent from 3 to 8 years; stable thereafter |
| 24–19 | Normal | Reduced arm swing | Slow arm and hand movements | NA | None | IQ = 97 | Normal | None |
| 25–20 | Severe dystonic dysarthria | Extreme leg spasms prevent standing or walking | Severe generalized dystonia | 12.5 | Brisk arm and leg reflexes, ankle clonus | ADHD, IQ = 86 | Anxiety disorder | None |
| 26–21 | Moderate dystonic dysarthria, childhood stuttering | Independent but very slow and laboured with very stiff appearance | Moderate generalized dystonia affecting face, neck, trunk, limbs; bradykinesia | 39 | None | ADHD, special education, IQ = 78 | Incarcerated for inappropriate behaviour | Motor and speech delay noted by 2 years; stable clumsiness until 9 years when stuttering speech began; progressive gait disability with falls at 18 years |
| 27–22 | Slightly indistinct | Normal but can’t edge-walking | Slow/clumsy hand movements | 6 | Brisk arm and leg reflexes, ankle clonus | Marked cognitive impairment | Aggressive | Motor and speech delay noted by 2 years; stable thereafter |
| 28–23 | Slight dystonic dysarthria | Mildly dystonic | Hypomimia, mild generalized dystonia, affecting face, trunk, limbs | NA | Brisk leg reflexes | Special education | Normal | None |
| 29–5 | Moderate dystonic dysarthria with jaw dystonia | Independent but hyperlordotic with very slow and laboured stiff appearance | Moderate generalized dystonia affecting face, trunk, limbs with bradykinesia, rigidity | 37 | Brisk leg reflexes, ankle clonus | Special education | Normal | Motor and speech delay noted at 2–4 years; stable thereafter |
| 30–24 | High-pitched nasal voice | Moderately slow with stiff appearance | Mild generalized dystonia affecting face and limbs | 16 | Brisk arm and leg reflexes, ankle clonus | IQ = 96 | Onychophagia when stressed | NA |
| 31–25 | Normal | Normal | Postural and kinetic tremor | NF | None | NA | Normal | None |
| 32–26 | Severe dystonic dysarthria | Severe posturing prevents standing or walking | Severe generalized dystonia affecting face, neck, trunk, limbs; occasional chorea and ballismic limb flailing | 61 | Reduced distal muscle bulk | IQ = 87, 77 | None | Motor and speech delay noted at 1 year; involuntary movements progressively apparent from 2 to 4 years; stable thereafter |
| 33–27 | Moderate dystonic dysarthria | Independent but very slow and stiff appearance with rare skip-like postural adjustments | Moderate generalized dystonia affecting face, trunk, limbs; bradykinesia | 16 | None | ADHD, IQ = 74 | Normal | Motor delay by 1 year, progressive clumsiness from 2–4 years, progressive gait disability beyond 20 years |
| 34–28 | Severe dystonic dysarthria | Truncal hypotonia with dystonic leg posturing prevents standing or walking | Resting hypotonia, severe generalized dystonia affecting face, neck, trunk, limbs; occasional choreiform and ballismic limb flailing | 68 | Brisk arm reflexes | IQ = 49 | Sits on arms to avoid hitting bystanders, story fabrication | Motor and speech delay with involuntary movements noted by 1 year; involuntary movements increasingly apparent through 30 years |
| 35–22 | Normal | Normal | Minor overflow posturing of one hand | 1 | None | Mild executive syndrome | Normal | None |
| 36–16 | Moderate dystonic dysarthria | Slightly slowed and heavy appearance | Slow/clumsy limb movements, stereotypical action-induced elevation of one shoulder | 11 | Brisk arm and leg reflexes, neuropathy | Poor school performance | Onychophagia | Motor and speech delay noted at 2–4 years; stable until >20 years when additional disability due to joint deformity began |
| 37–29 | Mild dystonic dysarthria with slight stuttering | Independent but hyperlordotic and stiff appearance | Slow/clumsy hand movements with overflow posturing | 14.5 | None | ADHD, could not finish public school, IQ = 68 | Onychophagia | Motor and speech delay noted at 2–4 years; stable clumsiness thereafter |
| 38–30 | Slightly slowed and indistinct | Slowed and stiff appearance; desires support at all times | Mild generalized dystonia with slow/clumsy hand movements | 22.5 | Brisk arm and leg reflexes | Frontal syndrome | Normal | Motor and speech delay by 2 years, sudden gait decline at 30 years after dropping daughterb |
| 39–29 | Mild dystonic dysarthria with severe jaw dystonia and stuttering | Independent but hyperlordotic and stiff appearance | Blepharospasm | 5 | None | IQ = 68 | Normal | Motor and speech delay noted at 2–4 years; stable clumsiness thereafter |
| 40–25 | Normal | Impaired by joint deformities from tophaceous gout | None | 0 | None | Normal | Progressive disability due to joint deformity | |
| 41–31 | Slightly slowed and indistinct | Extreme leg spasms prevent standing or walkingb | Painful transient leg spasms, postural and kinetic tremor | 6 | None | Slow learner | Impulsive | Leg braces from 5 to 6 years, mild dystonic posturing until sudden decline at 40 years due to painful leg spasms |
| 42–32 | Normal | Normal | None | 0 | None | NA | Normal | None |
| 43–16 | Moderate dystonic dysarthria | Slightly slowed, cannot toe or heel walk due to joint deformity from tophaceous gout | NF | Brisk leg reflexes, peripheral neuropathy | NA | Emotional lability | Progressive hand disability due to joint deformity | |
| 44–33 | Slightly indistinct | Normal | Slight cogwheeling and slowing of hand movements | 5 | Brisk arm and leg reflexes, mild spasticity | Slow learner, IQ = 78 | Normal | None |
| 45–34 | Normal | Impaired by joint deformity from tophaceous gout | None | 4 | Normal, no testing | Normal | Progressive disability due to joint deformity beyond age 40 years | |
| 46–33 | Slightly indistinct with intermittent stuttering | Normal | Slight slowing of hand movements | 5 | Brisk arm and leg reflexes, mild spasticity | Slow learner, IQ = 93 | Normal | Stable stuttering since early childhood |
Some information was not available (NA). BFM = Burke–Fahn–Marsden dystonia rating scale; NF = not feasible because of severe tophaceous gout with joint deformity precluding meaningful motor exam or other confounding problems. The extensor plantar reflex was not included among the pyramidal signs because it could not be unequivocally distinguished from the dystonic toe response.
aBFM score taken at baseline, not after exercise.
bFunctional decline suspected to be psychogenic. One patient developed sudden deterioration of gait with examination features suggestive of fear of falling after he dropped his infant daughter. The other suddenly developed incapacitating painful leg spasms that were inducible following a minor knee injury. In both, there was no evidence for parallel deterioration of speech or hand skills.