[Proximal myotonial myopathy (PROMM): clinical and histology study].
We report 13 French patients with proximal myotonic myopathy. PROMM is a recently delineated multisystem disorder with dystrophic myopathy, myotonia and cataracts. This syndrome is genetically distinct from myotonic dystrophy (DM) by the absence of abnormal CTG repeat expansion. The geographical origin varies but 4 families originated from Poland. Of late onset, muscle weakness is diffuse and predominantly affected proximal and axial muscles. Facial involvement and myotonia were moderate or absent, but in all cases myotonic discharges were detected on EMG. 6 patients suffered from myalgia. Cataracts occurred in 11 patients, mainly indistinguishable from those in DM. Cardiac arrythmia occurred in 7 patients. Muscle biopsy revealed rare structural changes of the muscle fibers and selective type I atrophy, common in DM, could not be found on morphometric analysis. PROMM has a distinct clinical spectrum from DM which includes a predominantly proximal muscle weakness, with troubling pain, a more favourable prognosis and a different histopathological pattern.
Bassez
G
G
Fédération de Neurologie Mazarin, Hôpital de la Salpêtrière, Paris.
Attarian
S
S
Laforêt
P
P
Azulay
J P
JP
Rouche
A
A
Ferrer
X
X
Urtizberea
J A
JA
Pellissier
J F
JF
Duboc
D
D
Fardeau
M
M
Pouget
J
J
Eymard
B
B
D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000503:physiopathology; D002386:Cataract / Q000503:physiopathology; D005260:Female; D005602:France; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D020967:Myotonic Disorders / Q000473:pathology* / Q000503:physiopathology*; D011044:Poland / Q000208:ethnology; D013030:Spain / Q000208:ethnology