Disease Information for Myotonia atrophica (Steinert's disease): Clinical Manifestations

Signs & Symptoms
Akinetic rigid frozen Posture
Particular physiognomy/Odd looking kids
Broad forehead/facies
Cheeks Sunken/Wasting
Craniofacial Abnormalities/Congenital
Facial expression dull/Dull facies
Facies particular
Flat cheeks deformity/congenital
Furrowed forehead
Hatchet-like facies
Myopathic facies/snarling smile
Open/triangular mouth shape
Prominent forehead/High forehead
Weakness facial muscles/symmetrical
Breast Swelling Bilateral
Cardiac Symptoms/Signs
Frontal Balding
Gray Hair
Gray hair, premature
Hair loss
Non-scarring Alopecia/balding
Premature baldness/sign
Receding hairline
White Hair
Eunuchoid habitus/Eunuchoidism
Small testes
Small/soft testes
Masseter muscle spasm
Narrow oral aperture/small mouth opening
Cramping in Extremities
Distal leg weakness
Distal Muscle Weakness
Distal upper extremity weakness
Facial muscle wasting/sign
Masseter muscle weakness
Muscle Atrophy
Muscle cramps/spasms
Muscle pains/exercise induced
Muscle spasticity
Muscle stiffness/rigidity
Muscle weakness/with repetitive challenge
Myokimia/Muscle pulling sensation
Myotonic like rigidity of muscles
Neck weakness/head nodding
Percussion myotonia/delayed sign
Slow Muscle Contraction-Prolonged relaxation
Sternocleidomastoid muscle wasting
Thenar percussion/myotonia sign
Unable to release/relax grip
Weak hand grip
Cognitive deficit/mild
Cranial nerve abnormalities/involvement/signs
Difficulty flexing neck
Facial Nerve Palsy/Facial Paralysis
Facial weakness/droop, unilateral
Grip strength decreased
Hung reflexes (prolonged relaxation)/Woltman sign
Hyporeflexia/DTRs decreased
Limb weakness/signs
Motor slowing
Movement or gait disorder/signs
Muscle stiffness/improves with exercise
Nasal speech/regurgitation
Spasms in Both Legs
Shallow breathing
Distal Hyperlaxity
Difficulty Talking
Nasal/Hyponasal sound to voice
Muscle Wasting/Diffuse
Ptosis (blepharoptosis)
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Infertility Male Normal Androgens
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Onset/fourth decade
Onset/in third decade