Tubular Aggregate Myopathy Details

Expanded Description

Tubular aggregates in skeletal muscle are collections of small tubules at the electron microscopy level and as granular inclusions at the histochemical level. Tubular aggregates are often found in periodic paralysis and myotonic disorders. Tubular aggregates are also seen as inconstant feature or minor pathologic findings in a wide variety of myopathies and occasionally as incidental findings in normal skeletal muscles.

Tubular aggregate myopathy or myopathy with tubular aggregates refer to a rare entity that tubular aggregates represent the major, if not sole, pathologic changes of a primary myopathy that do not contain other diagnosable myopathic changes. No specific genetic alterations have been confirmed. Both sporadic (affecting only males) and familial cases (in both sexes) can occur. Both autosomal dominant and autosomal recessive pattern of inheritance have been described.

Clinical manifestations of familial tubular aggregate myopathy fall into four known major groups. The first group are featured by slowly progressive, isolated, limb weakness with childhood or adult onset and without fatigability. The second type is featured by exercise induced muscle pain, cramps, and stiffness that can begin in childhood or adult and may be progressive and result in severe disability. The third type has myasthenic features, congenital myasthenic syndrome, limb weakness and easy fatigability in childhood or adulthood. The fourth type is the most unusual as it is not associated with obvious muscle symptoms. In contrast, this is a rare autosomal recessive disorder featured by slowly progressive visual loss with gyrate atrophy of the choroids and retina.

Prevalence

0.0 ( Per 100,000 Population ) [Source]

Causes

Unknown but has to be a genetic defect which has yet to be identified.

Disorder Symptoms

- Pain with fasiculations (twitching – sometimes violent) in calf muscles, and biceps / forearms.
- Occasional persistent abdominal pains (abdominal muscles actually tender to the touch).
- Noticeable muscle wasting (paticularly noted in the biceps, quadriceps and calf muscles).
- Exercise-induced pain and fasiculations (often happening hours following the exercise – even walking)
- For some, pain is a major symptom of TAM, and is often difficult to manage.
- Generalized fatigue – for no apparent reason – which can be very discouraging..
- Often, psychological depression accompanies the TAM.

We don't have any symptoms yet.

Diagnosis

- Must conclusive diagnosis is offered by muscle biopsies (in the muscles wherein the most problems are evident). These biopsies must be conducted according to strict clinical practice guidelines..
- There are no specific blood or radiological exams which enable a specific diagnosis – sort of a process of excluding other possibilities.

Diagnostic Tests

- EMG
- Muscle biopsies

We don't have any tests yet.

Disorder Treatments

Do not over-challenge muscles, as pain will most defintely follow.
TAM PATIENTS MUST RESORT TO ‘TAKING IT EASY’.
- “The more you do, … the more you suffer”
- Often managing pain is the main treatment modalty

We don't have any treatments yet.

Prognosis

- There is no cure;
- One must adapt to live the most rewarding life possible.

Tips for Living with the Disorder

We don't have any tips yet.