Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.

Introduction: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders.

Methods: Serum FGF21 levels were determined in 71 human samples.

External ophthalmoplegia associated with Hashimoto's thyroiditis and recovered on corticosteroid treatment.

Five-year follow-up of a young male patient is presented. Total external ophthalmoplegia developed 1 week after an upper respiratory tract infection. After 3 years of the course, hyperthyreosis and clinical signs of thyroid-associated ophthalmopathy occurred.

Bilateral effects of unilateral thalamic deep brain stimulation: a case report.

A recent study has proved that unilateral deep brain stimulation (DBS) of the subthalamic nucleus has bilateral effects. However, it is still unclear whether unilateral ventral intermediate thalamic nucleus (Vim) DBS exerts exclusively contralateral or bilateral effects on tremor. Previous studies demonstrated a clinically irrelevant improvement on the nontarget side after thalamic stimulator implantation, which was considered to be solely the result of mechanical effects.

Asymmetric calf hypertrophy of neurogenic origin.

A 47-year-old male presented with painful swelling of the right calf. His medical history was negative, except for a herniation of disc LIV-V 5 years before. Physical examination revealed unilateral calf hypertrophy with moderate weakness of plantarflexion, mild paresis of dorsiflexion.

Neurosurgical treatment of tremor in mitochondrial encephalopathy.

A 53-year-old woman underwent several ischemic stroke-like episodes and later developed incomplete, bilateral ophthalmoplegia, left vision deterioration, and bilateral tremor. The clinical course, laboratory data, and muscle histology led to a diagnosis of mitochondrial encephalomyopathy. No other etiology could be identified in the background of her disabling bilateral postural-kinetic tremor.

[Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease].

Introduction: Adult-onset acid maltase deficiency myopathy is a rare lysosomal storage disease with an autosomal recessive pattern of inheritance. The disease can be manifested with respiratory insufficiency and fatigue.

Methods: A case of a 45-year-old male patient is presented, and difficulty in diagnosis is discussed.

Distal myopathy with rimmed vacuoles and cerebellar atrophy.

Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25. The progression was slow, but after 16 years he became seriously disabled.

Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation.

The mitochondrial DNA A3243G transition is a fairly common mutation which often associates with a MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) phenotype, however, a broad variety in the associated clinical picture has also been described. The patient reported here developed a generalized seizure at age 12, which was followed by bilateral hearing loss and occasional fatigue. The maternal inheritance pattern of hearing loss pointed to a possible mitochondrial origin, which was confirmed by molecular analysis of the mitochondrial DNA, revealing a heteroplasmic A3243G transition.

[Early onset dementias: three cases].

Introduction: Dementia is a decline of intellectual abilities. The etiology of dementia syndrome is diverse. The authors describe three patients with early-onset dementia.

[Diagnosis and therapy of myotonic dystrophy in our practice of neuromuscular care].

Introduction: Myotonic dystrophy is the most frequent, autosomal dominantly inherited muscular dystrophy. The typical neurological picture (facial myopathy, myotonia, muscle atrophy) may be associated with cardial, endocrine and ocular symptoms.

Methods: The diagnosis is based on electromyography, muscle biopsy and genetical tests.