Since Jan. 27, 2000
ULLRICH'S DISEASE: CONGENITAL ATONIC-SCLEROTIC MUSCULAR SYSTROPHY
(This information is given by Dr. Nonaka,
Director of Musashi Hospital:National Center for Nervous, Mental and Muscular Disorders, Kodaira-shi,Tokyo, Japan.)
Dr. Nonaka has actually known about 10 cases of Ullrich's Disease in Japan.
Also there are other cases reported in conferences.
Now, in Japan, the estimated number of patients suffering from Ullrich's Disease is about 40 to 50.
There are larger number of cases reported from Japan, Germany, France and Italy compared to the other countries,
but we haven't heard about any cases reported from the United States of America so far.
The first case was reported by Ullrich, a German doctor, as congenital muscular dystrophy.
(Ullrich O: Kongenitale atonisch- sklerotische Muskeldystrophie. Moschr Kinderheilk 47:502-510, 1930)
In Japan, many cases have been reported by Dr. Nonaka and others.
This is about the article Dr.
Nonaka and others wrote for the international journal, Neuropediatrics, in 1981.
Very few articles on Ullrich's Disease can be found in the international journals of any areas of medicine.
Also most articles are written in Germany or Japanese.
So this is one of the very precious piece to give us ample information
on Ullrich's among the very few written in English.
A Clinical and Histological Study of Ullrich's Disease
( Congenital Atonic-Sclerotic Muscular Dystrophy)
Nonaka, I., Une, Y., Ishihara, T., Miyoshino, S., Nakashima, T. and Sugita, H. Neuropediatrics 12: 197-208 (1981)
ABSTRACT
Clinical characteristics recognized in five cases with Ullrich's disease included muscle weakness and wasting,
striking contracture of proximal (sclerotic) joints
and hyperflexibility of distal (atonic) joints since an early infantile stage, and slowly progressive course.
The biopsied muscles demonstrated myopathic changes including a remarkable variation in fiber size,
notably proliferated endomysial connective tissue,
increased myofibers with centralized nuclei and a few necrotic fibers with active phagocytosis.
On histochemical examination, no specific intracytoplasmic structural abnormalities such as nemaline bodies,
cores and myotubes were recognized.
Although both type 1 and 2 fibers were distributed in checkerboard pattern in most muscle fascicles,
type 1 fiber predominance or type 2 fiber deficiency was common in severely damaged muscles,
suggesting the presence of some kind of neural influence exerting
on the myopathic process as the disease progressed.
Since it still remains uncertain whether this disorder belongs to the muscular dystrophies,
or to other neuromuscular or mesodermal diseases,
we would rather label it Ullrich's disease than Ullrich's muscular "dystrophy" until its pathogenesis becomes clear.
＜Clinical Characteristics＞ from the information given by Dr.Nonaka to Tuckey
1. Striking contracture of proximal( sclerotic) joints and hyper-flexibility
and hyper-extensibility of distal( atonic) joints such as of hand and finger since birth or early infancy stage.
(Due to the extreme flexibility, joints in fingers, wrists, feet, or other distal area,
tend to be softened and bent to the abnormal direction.)
2. Delayed motor developmental milestones. (Most patients are not able to walk.)
3. Generalized muscle weakness and wasting.
(Facial muscle is also weak and therefore, it causes the face looking expressionless.)
4. Hyperhidrosis (perspiring a lot) even in cool weather.
(Therefore,the patients tend to have hard time in hot weather.)
5. Normal central nervous system with normal or rather higher intelligence.
(The central nervous system doesn't present any clinical abnormalities,
that proves the patient has no deficiencies in his intelligency.)
6. Slow progressive course.
(Sometimes no progression is made.)
For more information on Ullrich's, please try to browse on the following address:
http://www.ncbi.nlm.nih.gov/PubMed/
When you hit the Medline Index, click "Text word" and write in the key words.
When you found the list of references, click "Detail".
You can look at each abstract. If you want the complete article, click "Order".
The following articles from Medline Index might interest you to know more about Ullrich's Disease.
No To Hattatsu 1991 Nov;23(6):590-5
[The clinical effect of mechanical ventilatory assistance with tracheotomy in terminal phase muscular dystrophy].
[Article in Japanese] Kasagi S Department of Pediatric Neurology,
Tottori University School of Medicine, Yonago.
The clinical effect of mechanical ventilatory assistance with tracheotomy in respiratory failure of
terminal phase muscular dystrophy was studied.
The subjects were 6 Duchenne muscular dystrophy cases and 1 Ullrich type congenital muscular dystrophy case.
Duration of the longest survival case was 4 years and 5 months.
General physical conditions, complications, ADL and muscular atrophy were examined.
By ventilatory assistance respiratory failure improved, and the physical condition stabilized and took good progress.
Arterial hemorrhage which is lethal complication was observed in 2 cases.
Mechanical ventilatory assistance with tracheotomy is an effective symptomatic therapy for the improvement
of respiratory failure that can be applied when life prolongation is wished for by the patients or their families.
No To Hattatsu 1991 May;23(3):289-93
[A case of Ullrich disease with distinct pathological change of muscular dystrophy].
Article in Japanese] Goto A, Ishida A, Kobayashi Y, Takada G Department of Pediatrics,
Akita University School of Medicine.
A case of Ullrich disease was presented.
The patient was a 3-year-old girl with torticollis, generalized muscle weakness and acroatonia since birth.
High-arched palate, protruded calcaneus, and mild contracture of proximal joints were also recognized.
Intellectual development was normal. Serum level of CPK was slightly increased.
In histological and histochemical examinations of quadriceps femoris muscle, proliferated connective tissue,
marked variation in the muscle fiber diameter, and a lot of degenerated and regenerated
fibers were recognized. Minimal injury easily causes subcutaneous hemorrhage,
but no abnormality was found in the structure of collagen.
PMID: 2043373, UI: 91254814
