Dropped Head Syndrome As a Presenting Sign of Different Diseases: Report of Three Cases

Abstract

Dropped head is an abnormal forward flexion of the cervical spine. Patients can straighten their heads with support. This condition, which is seen as neck extensor muscle weakness, is defined as ‘head ptosis’ or ‘dropped head syndrome’ and is seen in various central and neuromuscular diseases. Myasthenia gravis, inflammatory myopathy, amyotrophic lateral sclerosis, facio-scapulo-humeral dystrophy, nemaline myopathy, carnitine deficiency and spinal muscular atrophy are some of the neuromuscular diseases seen in dropped head cases. We aimed to present 3 different cases with a diagnosis of myasthenia gravis, inflammatory myopathy, and amyotrophic lateral sclerosis presenting with dropped head.

INTRODUCTION

Dropped head has been described in various central and neuromuscular diseases (1). Common neuromuscular diseases are myasthenia gravis, myositis, myotonic dystrophy and motor neuron disease, while rarer causes include chronic inflammatory demyelinating neuropathy, pompe disease, congenital myopathy, mitochondrial myopathy, and carnitine deficiency (2). We aimed to discuss 3 different cases with a diagnosis of myasthenia gravis, inflammatory myopathy and amyotrophic lateral sclerosis presenting with dropped head.

Case 1

A 77-year-old male patient, first noticed that he could not hold his head upright and that his head fell forward 8 months ago hence he presented to neurology clinic. Cervical and brain magnetic resonance imaging (MRI) was performed on the patient in an external center and he was told that the results were normal, and mild sensorimotor polyneuropathy was detected in the electromyography (EMG) performed. When he presented to our clinic, the patient’s neurological examination revealed that the head was weak in extension and that he had a dropped head (Figure 1). In the upper extremity, bilateral distal muscles were weak and bilateral interosseous muscles were markedly atrophic. His speech was dysarthric and there was atrophy of the tongue with fasciculation. Jaw reflex was increased. Deep tendon reflexes (DTR) were increased in all extremities and the right plantar response was extensor. Electromyography showed normal sensory conduction study. In the right median and peroneal nerve, the compound muscle action potential (CMAP) amplitude was small, the motor conduction velocity was moderately slow, and the CMAP amplitude in the right tibial nerve was small. In the needle EMG study, long-duration, high-amplitude motor unit potentials (MUP) and positive sharp wave, fibrillation and fasciculation potentials were obtained in the tongue, right upper and lower extremity muscles. The patient’s EMG was compatible with motor neuron disease and he was started on riluzole treatment. The patient, who developed respiratory problems 3 months later, died approximately 8 months after the diagnosis. The patient gave informed consent for the publication of this case report.

Figure 1.

The patient with motor neuron disease showing dropped head.

Highlights

• Dropped head is a rare condition in which patients present with the problem of not being able to lift their head.

• We aimed to present 3 cases diagnosed with myasthenia gravis, inflammatory myopathy, and amyotrophic lateral sclerosis who presented with dropped head.

• The presence of different clinical findings accompanying dropped head may help us to make the correct diagnosis.

Case 2

A 78-year-old male patient presented to our clinic with the complaint of difficulty in keeping his head upright for about 3 months. It was learned that patient’s dropped head got worsened in the end of the day. Moreover along with the dropped head, it was noted that the patient had a significant loss of strength in the arms, which increased towards the end of the day. On neurological examination it was observed that prominent weakness in head extension and dropped head was present (Figure 2). There was ptosis and minimal weakness in inward gaze in the left eye. In motor examination, upper extremity proximal muscles: 4/5, distal muscles: 4–5/5, lower extremity proximal and distal muscles: 4–5/5 in MRC scale. Deep tendon reflexes were normoactive in all extremities and there were no pathological reflexes. Single Fiber EMG (SFEMG) was performed on the patient with the preliminary diagnosis of myasthenia gravis. In SFEMG performed during voluntary contraction of the frontal muscle, 15 potential pairs were obtained, and individual jitter was found to be abnormal in 12 of them. Block was detected in 5 potential pairs. In conclusion, SFEMG findings indicated severe neuromuscular conduction disorder, namely Myasthenia Gravis disease. Anti-acetylcholine receptor antibody of the patient was positive (8.88 nmol/L). Intravenous immunoglobulin (IVIG) was administered to the patient for 5 days. Methylprednisolone treatment was started 16 mg and increased to 64 mg and after 4 months, maintenance treatment was continued with pyridostigmine, azathioprine, and 4 mg methylprednisolone. The patient’s dropped head and left eye ptosis resolved almost completely after 3 months. The patient gave informed consent for publication of this case report.

Figure 2.

The patient with myasthenia gravis showing dropped head.

Case 3

A 55-year-old female patient was referred to our clinic for botox application with the diagnosis of cervical dystonia. When her complaint was asked, she said that her head was falling forward, especially while walking, for about a year. In the examination of the patient in our clinic, no hypertonia was detected in the cervical muscles. Head extension was markedly weak, that is, the patient had a dropped head. In the motor examination, upper extremity and lower extremity proximal muscles were 4/5 and distal muscles were 5/5 in MRC scale. DTRs were normoactive in all extremities. There was no pathological reflex. Creatine Kinase was high (485 U/L). Since the clinical findings of the patient were not compatible with dystonia, weakness in the proximal muscles and dropped head were thought to be early signs of some myopathies, Therefore EMG was performed. Motor and sensory conduction study were normal. In the needle EMG study; significant low amplitude, short duration MUPs, positive sharp wave and fibrillation potentials were obtained in cervical paraspinal muscles and upper extremity in proximal muscles. We found that the patient’s EMG was compatible with myopathy. Afterwards, the diagnosis of inflammatory myopathy was made by biopsy performed from the deltoid muscle. The patient was started on 64 mg methylprednisolone treatment with the diagnosis of inflammatory myopathy, and after 1 month, when the clinical improvement became evident, it was continued with a maintenance dose of 4 mg. After 6 months, the patient’s dropped head and other clinical findings were completely resolved. The patient gave informed consent for publication of this case report.

DISCUSSION

Dropped head is a rare condition in which patients apply with the problem of not being able to raise their head due to extensor muscle weakness in the neck muscles. The most common causes of dropped head among neuromuscular diseases are myasthenia gravis, inflammatory myopathy and motor neuron disease (2).

In the retrospective study conducted by Marvin et al., in which 178 MG patients were examined; dropped head was detected in only 15 (10%) of 146 generalized MG patients. It was observed that the majority of these patients were positive acetylcholine receptor antibodies, male and had late-onset MG. Among 15 patients with dropped head, 11 came to regular check-ups. The dropped head completely recovered after the treatment in 9 patients (3). Our patient was also a male with generalized, late-onset MG, and almost completely recovered after immunosuppressive therapy, which is similar to the reported cases.

In a study by Alhammad et al. the clinical spectrum and treatment results of hereditary and acquired myopathies in 107 patients admitted with dropped head were examined. Dropped head was the first reason for admission in 92 of 107 patients. In 57 of these patients, the type of myopathy was determined by diagnostic tests. Myopathy type was found to be inflammatory myopathy in 16 patients, myopathy with rimmed vacuoles in 10 patients, radiation-induced myopathy in 8 patients, sporadic late onset nemaline myopathy in 7 patients, and myofibrillar myopathy in 4 patients. Other myopathy types are listed as facioscapulohumeral muscular dystrophy, inclusion body myositis, mitochondrial myopathy, scleroderma myopathy, necrotizing autoimmune myopathy. Fifty patients whose myopathy types could not be determined by diagnostic tests were classified as unspecified myopathy. It has been stated that there is a common assumption that myopathic dropped head syndrome is often associated with an incurable nonspecific myopathy. The study emphasized that early diagnosis is very important both in treatment and prognosis. In our patient, the dropped head almost completely recovered after steroid treatment.

In the retrospective study, which spanned over 20 years, of Gourie-Devi et al., dropped head was only seen in 9 patients out of 683 ALS patients. While 1 patient had only bulbar symptoms and dropped head, the other 8 patients had limb weakness and dropped head (4). Our patient was unique as in his case dropped head was the first symptom, while neither of other patients have dropped head as the first symptom.

Presence of some simultaneous clinical findings besides dropped head may help us to make the correct diagnosis. Clinical history taken from the patient, neurological examination, laboratory tests and EMG findings should be evaluated together. In the clinical history of MG patients, there is muscle weakness that increases especially towards the evening and ptosis is the most common. Often, bulbar findings are added to ocular findings in a short time. Weakness in the extremity muscles is seen in the proximal and distal muscles of the upper extremity and in the proximal muscles of the lower extremities. Positive acetylcholine receptor antibody or anti-Musk antibodies are diagnostic in a patient with suspected MG (5). Our patient was diagnosed with MG through below mentioned symptoms: i) dropped head ii) restricted inward gaze iii) ptosis in the left eye, i.v.) weakness in the proximal muscles, v) positive acetylcholine receptor antibody.

The presence of proximal muscle weakness in the clinical history and examination together with the dropped head, and its subacute development, sometimes accompanied by skin findings, lead to the diagnosis of inflammatory myopathy. As a laboratory finding, the presence of elevated creatine kinase (CK) is supportive (1). Our patient was also diagnosed with myopathy due to proximal muscle weakness with dropped head and high CK value (CK: 485 U/L Normal: <200 U/L).

Local, painless, asymmetric muscle weakness and atrophy are seen in ALS, especially at the beginning phase of the disease. In patients with bulbar onset, the first complaint is usually dysarthria. Extremity weakness usually predominates in the first distal muscles. The disease contains both upper and lower motor neuron findings (6). Our patient was also diagnosed with ALS with dropped head, asymmetric weakness, atrophy in bilateral distal muscles, dysarthria, tongue atrophy and fasciculation, increased jaw reflex, increased DTRs in all extremities, and extensor plantar response.

CONCLUSION

In order to diagnose dropped head, all clinical findings and diagnostic tests of the patient should be evaluated together. Timely diagnosis will also enable early treatment of the patient.