for SteveRe: my recent tests, and MDA website handling of mito

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ev Neurol. 2003 Jun 1-15;36(11):1026-9.

[Multiple symmetric lipomatosis associated to polyneuropathology,

atrophy of the cerebellum and mitochondrial cytopathy]

[Article in Spanish]

Castro-Gago M, Alonso A, Pintos-ez E, Novo- MI,

Blanco-Barca MO, Campos Y, Arenas J, Eiris-Punal J.

Hospital Clinico Universitario de Santiago de Compostela, Santiago

de Compostela, Espana. pdcastrs.es

INTRODUCTION: Multiple symmetric lipomatosis (MSL), which is

predominantly found in middle aged males, is characterised by

accumulations of fat in the neck, shoulders and other parts of the

trunk, and sometimes associated with different neurological

manifestations, both central and peripheral. Although its aetiology

is unknown, it has been described as associated with mitochondrial

cytopathies. AIMS. To describe the case of a young female with MSL

associated with mitochondrial encephalomyopathy. CASE REPORT: Girl

aged 14 with MSL, ataxia, patellar hyperreflexia, bilateral Babinski

sign, pes cavus, axonal peripheral neuropathy, involvement of the

optic pathway, atrophy of the cerebellum, subsarcolemmal

mitochondrial accumulations in the untrastructural examination of

the vastus lateralis muscle and partial deficit of complex I in the

mitochondrial respiratory chain. As regards molecular genetic

aspects, the most frequent mutations of the ATPase 6 gene in

lymphocytes, and mtDNA deletions and tRNALys and tRNALeu(UUR)

mutations in muscles were excluded. CONCLUSIONS: Despite the fact

that MSL is an entity normally found in adults, the possibility of

its being diagnosed in the paediatric age must be taken into

account. This case is probably the second time MSL has been observed

associated with mitochondrial cytopathy in this age bracket.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?

cmd=Retrieve&db=PubMed&list_uids=12808497&dopt=Abstract [PubMed - in

process

>

> 1) In the " list of 40 " at

http://www.mdausa.org/disease/40list.html in the

> section entitled Mitochondrial Myopathy (MITO) there is this

sentence under

> Symptoms: " Generalized muscle weakness, flaccid neck muscles and

inability

> to walk. " Regarding " muscle weakness " , I would add " and exercise

> intolerance " . While this may seem a small point, it matters a lot.

I just

> saw a doctor who specializes in neuromuscular myopathies, who was

convinced

> that my previous much-supported diagnosis of Mitochondrial

Myopathy must

> have been wrong, BECAUSE MY MUSCLES ARE RATHER STRONG. As it

happens, my

> muscle strength rapidly deteriorates upon a very small amount of

exercise

> (and I then also develop other symptoms such as dizziness). But

even within

> his specialty, this doctor had very little experience with mito,

and hence

> relied on the very brief statement he had learned regarding

WEAKNESS. So

> hopefully you can see this small point could be important in

diagnosis and

> treatment of this still-poorly-understood category.

>

> 2) In the same section as above, under Inheritance it

says " Maternal

> mitochondrial gene (mtDNA). " While this is typically quite true,

there are

> also a LARGE percentage of occurences where the underlying cause

appears to

> be spontaneous mitochondrial mutations, which are not inherited. I

think the

> way your statement reads, one could infer that it is mostly or

always

> inherited. One large category of Mitochondrial Myopathy is possibly

> triggered by large-scale and/or long-term chemical exposure. Some

strongly

> implicated substances are alcohol, certain pesticides, and anti-

HIV drugs,

> and there are many other possibilities. In my case, extended use of

> prescribed valproic acid (Depakote) is suspected. So I would

suggest

> re-wording to say for example " Frequently but not always maternal

> mitochondrial gene (mtDNA). "

>

> I hope that these little nits will be appreciated as nonetheless

important.

> Would the person who eventually acts on this, or decides not to,

please give

>

> Regards

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